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
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Infertility, Hearing impairment OMIM:300719
Mucolipidosis Type Iii
Craniofacial hyperostosis, Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Sho... ORPHA:577
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Dense metaphyseal bands, Small for gestational age, Generalized lipodystrophy, Slender long bones... ORPHA:50811
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Anteverted nares, Abnormal retinal va... ORPHA:791
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Wide nose, Posteriorly rotated ears, Chorioretinal degeneration, Broad nasal tip, Posterior subca... OMIM:615458
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Bronchiectasis, Nasal congest... OMIM:615434
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Metaphyseal wide... OMIM:259600
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Short stature, Narrow mouth, Abnormal form of the vertebral bodies, Abnormal pel... ORPHA:2370
Frank-Ter Haar Syndrome
Mandibular prognathia, Genu recurvatum, Deeply set eye, Short philtrum, Clinodactyly of the 5th f... ORPHA:137834
Stickler Syndrome Type 1
Cataract, Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Platysp... ORPHA:90653
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypertelorism, Ocular hypertensio... OMIM:614195
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Failure to thrive, Small for gestational age, Sparse facial hair, Sparse axillary hair, Congenita... OMIM:608154
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Cataract, Macular atrophy, Microcephaly, Prominent nose, O... OMIM:616171
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hearing impairment OMIM:274205
Oculofaciocardiodental Syndrome
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Highly arch... ORPHA:2712
Brittle Cornea Syndrome 1
Keratoconus, Congenital hip dislocation, Mitral valve prolapse, Atypical scarring of skin, Kerato... OMIM:229200
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Lateral... OMIM:300166
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Hypertrichosis, Mitral valve pro... OMIM:601216
Exudative Vitreoretinopathy 4
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrha... OMIM:601813
Chromosome Xp11.3 Deletion Syndrome
Cataract, Microcephaly, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary... OMIM:300578
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Li... ORPHA:2334
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigme... OMIM:204000
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Underdeveloped superior crus of antihelix, Convex nasal ridge, Mic... ORPHA:293967
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Ocular hypertension, Uv... ORPHA:98973
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, Abnormally... OMIM:249420
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairme... OMIM:612674
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... ORPHA:2501
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Ocular hy... ORPHA:94058
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio, Ocular hypertension OMIM:617272
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa... OMIM:211380
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Ocular hypertension OMIM:618880
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, Short stature, Antev... OMIM:619727
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari... ORPHA:65
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Ruijs-Aalfs Syndrome
Cataract, Lipodystrophy, Prominent nasal bridge, Bulbous nose, Posterior subcapsular cataract, Os... OMIM:616200
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... OMIM:618363
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, High palate, Atrial se... OMIM:121050
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr... ORPHA:193
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Sacral dimple, Micrognathia, Large for gestational age, Kyphosis, Wide anterior ... OMIM:618272
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Hypergonadotropic hypogonadism, Abnormality of the ear, Secondary amenorrhea,... OMIM:268020
Noonan Syndrome 13
Short neck, Micrognathia, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Ge... OMIM:619087
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Anterior synechiae of ... OMIM:269400
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... OMIM:300424
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Wide an... ORPHA:2963
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Abnormal finger morphology, Hypotelorism, Short palm, Large iliac wing, Ab... ORPHA:2511
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy OMIM:258870
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Abnormality of the knee, Rhizomelia, Short neck, Abnormality of the humer... ORPHA:3098
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Iris cyst OMIM:620086
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Hernia, Anteverted nares, Abnormal dental enamel morphology, Short... ORPHA:582
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, High, narrow palate, Deeply set eye, High palate, Scapul... OMIM:616914
Cornelia De Lange Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragmatic hernia, Micromeli... ORPHA:199
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... OMIM:305620
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Cryptorchidism, Postaxial hand p... ORPHA:36
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Brittle Cornea Syndrome 2
Keratoconus, Inguinal hernia, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Umbil... OMIM:614170
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Micrognathia, Cardiomegaly, A... OMIM:245600
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Aortic regurgitation, Hyperextensibility of the finger joints, Arachnodact... OMIM:609008
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Distal Deletion 6P
Wide nose, Corneal opacity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, ... ORPHA:96125
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... ORPHA:1473
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Depressed nasa... ORPHA:61
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Sensorineural hearing impairment, Osteopo... ORPHA:90354
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depress... OMIM:108300
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Short stature, Prominent nasal bridge... OMIM:216550
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Cataract, Microcephaly, Optic atrophy, Protruding ear, Proptosis, Joint contr... OMIM:617481
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphysis, Platysp... ORPHA:157965
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Uveal Melanoma
Retinal detachment, Iris melanoma, Ocular hypertension, Inferior lens subluxation, Abnormal fundu... ORPHA:39044
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Hyp... OMIM:615761
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... ORPHA:15
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Prominent nose, Flexion contracture, Abnormality of the ear, Knee flexi... OMIM:214150
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Wide mouth, Deepl... OMIM:617228
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Vitreous haze, Band keratopathy, Epiretinal ... ORPHA:279914
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Dental crowding, Microgn... ORPHA:228410
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Oculoauricular Syndrome
Posterior embryotoxon, Cataract, Short mandibular rami, Sclerocornea, Ocular hypertension, Phthis... OMIM:612109
Winchester Syndrome
Arthropathy, Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, C... OMIM:277950
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Broad hallux, Small for gestational age, Highly arched eyebrow, Microgna... OMIM:614541
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... OMIM:613913
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Disproportionate ... ORPHA:2868
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Inguinal hernia, Persistent open anterior fontanelle, Arachnodactyly, Facial hypotonia, Dental cr... OMIM:615539
Vitamin K Antagonist Embryofetopathy
Cataract, Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Optic atrophy... ORPHA:1914
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Micrognath... OMIM:263210
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Hypoplasia of the maxilla, Pectoral muscle hypoplasia/aplasia, Widely-s... OMIM:136760
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Hyperte... ORPHA:90646
Donnai-Barrow Syndrome
Omphalocele, Retinal detachment, Posteriorly rotated ears, Retinal dystrophy, Depressed nasal bri... ORPHA:2143
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent... ORPHA:324410
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Genu recurvatum, Dental crowding, Calcaneovalgus deformity, Absent phalangeal ... ORPHA:230851
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Eales Disease
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... ORPHA:40923
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Microcephaly, Hypertelorism, Macrotia, Sensorineural hearing im... ORPHA:163937
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Coxa valga, Short neck, Micrognathia, Wide anterior fontanel, Hypertelori... ORPHA:163649
Lipoatrophy, Micrognathia, Small hand, Fine hair, Short foot, Scoliosis ORPHA:2500
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Hypertelorism, Short thumb, Cle... OMIM:612561
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Ocular hypertension OMIM:613517
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Micrognathia, Kyphosis, Cryptorchidi... OMIM:615381
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Becker Nevus Syndrome
Lipoatrophy, Micromelia, Lower limb asymmetry, Supernumerary nipple, Kyphosis, Abnormal tibia mor... ORPHA:64755
Vernal Keratoconjunctivitis
Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... ORPHA:70476
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Abnormal distal phalanx morphology of finger, Short stature, Depressed nasal bridge, Hy... ORPHA:1387
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Megalocor... ORPHA:536471
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Cataract, Microcephaly, Sensorineural hearing impairment, F... OMIM:618379
Costello Syndrome
Keratoconus, Ventricular septal defect, Abnormal dental enamel morphology, Short stature, Short n... ORPHA:3071
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Ventricular septal defect, Short stature, Kyphoscoliosis, Kyphosis, Metap... OMIM:259770
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Micrognathia, Kyphosis, Cryptorchidism, Low posterior hairli... ORPHA:2617
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Limited wrist extension, Protruding ear, Kerato... OMIM:108145
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, M... OMIM:255800
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Joint laxity, Microcephaly, Posterior subcapsular cataract, Bilateral camptodactyly, Astigmatism,... OMIM:619234
Stiff Skin Syndrome
Elbow flexion contracture, Knee flexion contracture, Lipodystrophy, Camptodactyly OMIM:184900
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Microcephaly, Abnormal na... ORPHA:1466
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Absent facial hair, Sparse facial hair, Short neck, High, narrow palate, Mitral va... ORPHA:2183
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Pseudoexfoliation, Pigment de... OMIM:177650
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislocation, Micr... ORPHA:536467
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Prominent fingertip pads, Curly hair, Arachnodactyly, Short stature, Hyperlordosis, Micrognathia,... OMIM:300986
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hypertelorism, Epiphyseal stippling, Cataract, Prominent nose OMIM:614882
Harel-Yoon Syndrome
Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Deeply set eye, Hip... OMIM:617183
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Small hypothenar eminence, Hypertelorism, Mitral valve prolapse, Small thenar em... OMIM:211960
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Abnormal pupil morphology, Per... ORPHA:101082
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Paraspinal muscle hypertr... OMIM:602484
Central Core Disease
Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Mitral valve prolapse, M... ORPHA:597
Cerebellofaciodental Syndrome
Cataract, Ventricular septal defect, Short stature, Short neck, Tapered finger, Sparse eyebrow, D... OMIM:616202
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon... ORPHA:508533
Alstrom Syndrome
Cone/cone-rod dystrophy, Chronic active hepatitis, Hypergonadotropic hypogonadism, Congestive hea... OMIM:203800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Ectopia lentis, Prominen... OMIM:601552
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Kyphosis, Wide anterior f... OMIM:610915
Scheie Syndrome
Mandibular prognathia, Aortic regurgitation, Wide nose, Corneal opacity, Depressed nasal bridge, ... OMIM:607016
Mucolipidosis Iii Gamma
Aortic regurgitation, Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral ep... OMIM:252605
Mucolipidosis Iv
Cerebellar atrophy, Corneal opacity, Microcephaly, Optic atrophy, Opacification of the corneal st... OMIM:252650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Anteverted nares, Microce... OMIM:152950
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Pes planus, Sparse scalp hair, Lipodystrophy, Arachnodactyly, Kyphoscoliosis, Sparse ey... ORPHA:75496
Cardiospondylocarpofacial Syndrome
Brachydactyly, Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, ... ORPHA:3238
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cataract, Small for gestational age, Choanal atresia, Prominent nasal bridge,... OMIM:615095
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... ORPHA:99642
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar ky... OMIM:618853
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90159
Loeys-Dietz Syndrome 4
Inguinal hernia, Flat cornea, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Hyperte... OMIM:614816
Schwannomatosis, Vestibular
Astrocytoma, Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal membrane, Vertigo, Ep... OMIM:101000
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Abnormal ... ORPHA:1988
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... OMIM:603165
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Micrognathia, Equinus calcaneus, Kn... ORPHA:536532
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Microcephaly, Broad... OMIM:620157
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Micrognathia, Metatarsus valgu... ORPHA:1388
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of th... ORPHA:1818
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Short sta... ORPHA:1798
Ehlers-Danlos Syndrome, Classic-Like, 2
Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Knee dislocation, Shoulder dislocat... OMIM:618000
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract, Microcephaly OMIM:615412
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthro... ORPHA:2848
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cutaneous ... OMIM:612961
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... OMIM:221900
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... OMIM:617396
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Pes planus, Lipoatrophy, Lipodystrophy, Cachexia, Micrognath... ORPHA:1979
Nathalie Syndrome
Sensorineural hearing impairment, Cataract, Arrhythmia ORPHA:2663
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:828
Spondyloocular Syndrome
Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posteriorly rotated ears, Po... OMIM:605822
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Hypoplasia of the maxilla, Microgn... OMIM:201000
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Depressed nasal bridge, Hypertelorism, Short nose, Juvenile cataract, Macroti... ORPHA:438178
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Short stature, Abnormal morphology of ulna, Short neck, Mitral valve prol... ORPHA:2233
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Kyphosis, Wide anterior fontanel, Tibial bowing, Slender long ... OMIM:259420
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Shal... OMIM:182212
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Hypertelorism, Wide anterior fontanel, Fibular h... OMIM:201170
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal foot morphology, ... ORPHA:85184
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Micromelia, Finger joint hypermobility, Atrial septal defect, Patent foramen o... OMIM:618870
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Narrow nasal bridge, Cataract, Overhanging nasal tip, Microcephaly, Proptosis, Convex nasal ridge ORPHA:85172
Cerebellar-Facial-Dental Syndrome
Short neck, Micrognathia, Sparse hair, Abnormal T-wave, Anteverted nares, Tapered finger, Sparse ... ORPHA:444072
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Primary amenorrhea, Generalized lipodystrophy... OMIM:612526
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Short stature, Increased adipose tissue, Spinal rigidity, Kyphosis, Hyperlordosis, Prox... OMIM:617404
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, High, narrow palate, Large iliac wing, Spina bifida occulta, Bifid uvula, Facial pa... ORPHA:2780
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Micrognathia, Hypertelorism, Deeply set eye, Sparse hair, Failure to thrive, Aplasia... ORPHA:261304
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Ocular hypertension, Vitritis, Reti... ORPHA:79098
Desbuquois Syndrome
Genu recurvatum, Camptodactyly of finger, Coxa valga, Short neck, Abnormal eyelash morphology, Sm... ORPHA:1425
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp... ORPHA:1277
Spastic Paraparesis And Deafness
Cataract, Hypogonadism, Hearing impairment OMIM:312910
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Oligomenorrhea OMIM:613877
20P13 Microdeletion Syndrome
Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Hypertelorism, Wide anter... ORPHA:313781
Crouzon Syndrome
Choanal atresia, Convex nasal ridge, Hypertelorism, Optic atrophy, Multiple suture craniosynostos... ORPHA:207
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Bowing of the long bones, Cataract, Ventricular septal defect, Rhizomelia, Proximal ... ORPHA:93267
Microtriplication 11Q24.1
Keratoconus, Attached earlobe, Wide nose, Posteriorly rotated ears, Microcephaly, Hypertelorism, ... ORPHA:289522
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis... ORPHA:40
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... OMIM:601356
Familial Isolated Dilated Cardiomyopathy
Palmoplantar keratoderma, Lipoatrophy ORPHA:154
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,... ORPHA:457395
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Reduced bone mineral density, Axonal loss, Gliosis, Corneal scarring, Increased susceptibility to... ORPHA:404454
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Subcutaneous hemorrhage, Microcephaly ORPHA:1980
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Lumbar hyperlordos... OMIM:607095
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5... OMIM:600561
Gómez-López-Hernández Syndrome
Anteverted nares, Corneal opacity, Low-set ears, Hypertelorism ORPHA:1532
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Oc... ORPHA:280921
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Coronal craniosynostosis, Genu... OMIM:614078
Rhizomelic Syndrome
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat... OMIM:268250
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy, Obesity OMIM:615995
Fg Syndrome Type 1
Dental crowding, Micrognathia, Prominent nose, Fused teeth, High palate, Atrial septal defect, Fi... ORPHA:93932
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Hyper... OMIM:130000
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Anteverted nares, Prominent nasal bri... ORPHA:401777
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Sandal gap, Lipodystrophy, Highly arched ... OMIM:270450
Lipodystrophy, Familial Partial, Type 6
Pes cavus, Lumbar hyperlordosis, Lipodystrophy, Abdominal obesity OMIM:615980
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Nemaline bodies, Dilated cardiomyopathy, Limb muscl... OMIM:161800
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Retinal dystrophy, Symblepharon, Posteriorly rotated ears, Narro... OMIM:618175
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... ORPHA:915
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplas... ORPHA:496790
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the... OMIM:166300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Microcornea, Anterior synechiae of the anterior chamber, Iris c... ORPHA:3214
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture... OMIM:300718
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hype... ORPHA:93333
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Flexion contracture, Promi... OMIM:618524
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Craniosynostosis, Proptosis, Elbow ankylosis, Recurrent corneal erosions OMIM:148800
Alport Syndrome
Posterior subcapsular cataract, Sensorineural hearing impairment, Abnormal corneal endothelium mo... ORPHA:63
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow,... OMIM:619451
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Short stature, Sparse eyelashes, Bifid nasal tip, Sparse eyebrow, Unila... OMIM:618874
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Prelingual sensorineural he... ORPHA:477
Donnai-Barrow Syndrome
Omphalocele, Retinal detachment, Cataract, Retinal dystrophy, Posteriorly rotated ears, Depressed... OMIM:222448
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hypertelorism... ORPHA:2021
Cutis Laxa, Autosomal Recessive, Type Iia
Pes planus, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Brittle hair, Abnormality... OMIM:219200
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Do... ORPHA:2409
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Microcephaly, Broad nasal tip, Cryptorchidism, Hypertelorism... OMIM:602342
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Arthropathy, Ventricular septal defect, Bicuspid aortic valve, Sclerotic cranial sut... ORPHA:371428
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short... OMIM:618392
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Microcornea, Deeply set eye,... OMIM:257850
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive, Corneal ... OMIM:617388
Myotonic Dystrophy 2
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoos... OMIM:602668
Shprintzen-Goldberg Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the vertebral bodi... ORPHA:2462
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity, Anteverted nares, Depressed nasal bridge, ... OMIM:618961
Full Nf2-Related Schwannomatosis
Astrocytoma, Remnants of the hyaloid vascular system, Facial palsy, Glioma, Bilateral vestibular ... ORPHA:637
Fragile X Syndrome
Mandibular prognathia, Metacarpophalangeal joint hyperextensibility, Scoliosis, Mitral valve prol... OMIM:300624
Sialidosis Type 2
Inguinal hernia, Corneal opacity, Flexion contracture, Osteoporosis, Umbilical hernia, Abnormal m... ORPHA:87876
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Proptosi... ORPHA:1310
Short Syndrome
Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipodystrophy, Hypertelorism... ORPHA:3163
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidi... OMIM:616638
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha... OMIM:212720
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Short stature, Thick nasal alae, Depressed nasal bridge, Hyperlordosis, Ab... ORPHA:557003
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Cardiac conduction abnormality, Hyperlordosis, Spinal r... ORPHA:97244
Erythrokeratodermia Variabilis
Cataract, Skin rash, Corneal opacity, Microcephaly, Weight loss, Protruding ear, Abnormal testis ... ORPHA:317
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Ocular hypertension, Optic disc coloboma, Microcornea, Shallow ante... OMIM:602499
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Highly arched eyebrow, Micrognathia, Hypertelorism, Cryptorchidism, Ulnar... OMIM:619135
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... OMIM:273750
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Spondyloepiphyseal Dysplasia Congenita
Back pain, Short neck, Micrognathia, Abnormally ossified vertebrae, Lumbar hyperlordosis, Hyperte... ORPHA:94068
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia... OMIM:618815
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... OMIM:248370
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Zellweger Syndrome
Failure to thrive, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Depressed nasal ... ORPHA:912
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Dental crowding, Micrognathia, Synophrys, Ragged-red muscle fibers, Deeply se... OMIM:620351
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent... OMIM:204200
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o... OMIM:253200
Mass Syndrome
Ectopia lentis, Arachnodactyly, Scoliosis, Mitral valve prolapse OMIM:604308
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Recurrent shoulder dislocation, Down-sloping shoulders, Hypergonadotropic hypogona... OMIM:212112
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Short phalanx of finger, Hypoplastic cer... ORPHA:56304
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Scoliosis, Intrauterine growth re... OMIM:616276
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Lateral Meningocele Syndrome
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... ORPHA:2789
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hyperlordosis, Hand muscle... ORPHA:363454
Gapo Syndrome
Keratoconus, Anteverted nares, Dysmenorrhea, Hearing impairment, Depressed nasal bridge, Choanal ... ORPHA:2067
Noonan Syndrome 14
Short neck, High, narrow palate, Sparse hair, Scapular winging, Short stature, Hypertelorism, Spa... OMIM:619745
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension, Peters anomaly, Ocular anterior segment dysgenesis, Iris coloboma, Hearing i... OMIM:610023
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Prominent nose, High, narrow palate, Fl... OMIM:180849
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... ORPHA:85438
Xeroderma Pigmentosum, Complementation Group D
Cataract, Microcephaly, Keratitis, Sensorineural hearing impairment, Telangiectasia, Keratoconjun... OMIM:278730
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Cervical kyphosis, High palate, Abnormality of the cervical spine, Microre... ORPHA:2953
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contracture, Mitr... OMIM:606631
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Ankle clonus, Scoliosis, Joint contracture, Pes cavus OMIM:611225
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, Hypertelorism, K... OMIM:615834
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Arachnodactyly, Dental crowding, Myocardial infarction, Kyphoscoli... OMIM:236200
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Dental crowding, Micrognathia, Equ... OMIM:154700
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:98855
Teebi Hypertelorism Syndrome 2
Syndactyly, Hypertelorism, Wide anterior fontanel, Proptosis, Clinodactyly of the 5th finger, Thi... OMIM:619736
Aldh18A1-Related De Barsy Syndrome
Joint hyperflexibility, Cataract ORPHA:35664
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Posterior subcapsular cataract OMIM:300619
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... OMIM:156530
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Scoliosis, Type 1 muscle... OMIM:619042
Acrofrontofacionasal Dysostosis 2
Syndactyly, Sacral dimple, Broad hallux, Hypertelorism, Wide anterior fontanel, Widow's peak, Han... OMIM:239710
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia, Convex nasal ridge, Microcephaly, Hypertelorism, EEG... ORPHA:3173
Dermoids Of Cornea
Corneal opacity OMIM:304730
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, Hypertelorism, K... ORPHA:352490
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... ORPHA:2616
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epiphyses of the p... OMIM:250460
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of th... ORPHA:2489
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Inguinal herni... ORPHA:2412
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb und... ORPHA:2310
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Ck Syndrome
Dental crowding, Prominent nasal bridge, Hyperlordosis, Micrognathia, Kyphosis, High palate, Scol... OMIM:300831
Mucopolysaccharidosis Type 1
Joint dislocation, Sinusitis, Low anterior hairline, Abnormal form of the vertebral bodies, Widel... ORPHA:579
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Anteverted nares, Depressed nasal... ORPHA:585
Palmoplantar Carcinoma, Multiple Self-Healing
Finger joint hypermobility, Limbal stem cell deficiency, Corneal neovascularization, Chronic rhin... OMIM:615225
8P11.2 Deletion Syndrome
Sacral dimple, Short stature, Depressed nasal bridge, Micrognathia, Hypertelorism, Anosmia, Mitra... ORPHA:251066
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Ocul... ORPHA:67042
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Broad nasal tip, Achi... OMIM:619719
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Warburg Micro Syndrome 2
Cataract, Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Postnatal growth retardati... OMIM:614225
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Hypertelorism, Central posterior corneal opa... OMIM:244600
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Skin rash, Microcephaly, Sensorin... ORPHA:290
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Abnormal dental morphology, Malar prominence, Hyperlordosis, Short neck, Micrognat... ORPHA:2522
Mucoepithelial Dysplasia, Hereditary
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Kniest Dysplasia
Hip contracture, Inguinal hernia, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epip... OMIM:156550
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... OMIM:616007
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Cataract, Depressed nasal bridge, Macular coloboma, Macula... OMIM:619260
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Microd... OMIM:607014
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Hypertelorism, Cryptorchidism... OMIM:300963
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... ORPHA:363417
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Deeply set e... ORPHA:3041
Marden-Walker Syndrome
Inguinal hernia, Arachnodactyly, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Wide anterio... OMIM:248700
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Micrognathia, Synophrys, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5th fin... OMIM:618443
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Ectopia lentis, Flexion contr... ORPHA:115
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Left atrial enla... OMIM:160500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Depressed nasal bridge, Short stature, Kyphosis, Congenital bilateral hip dislocation, ... ORPHA:85288
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Proteus-Like Syndrome
Retinal detachment, Cataract, Anteverted nares, Abnormal pupil morphology, Hyperostosis, Macrocep... ORPHA:2969
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spina... ORPHA:98863
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Curly hair, Aortic valve prolapse, Ventricular septal defect, Antev... OMIM:619980
22Q11.2 Deletion Syndrome
Conductive hearing impairment, Chronic otitis media, Small earlobe, Acne, Abnormal dental enamel ... ORPHA:567
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Cataract, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Low ... OMIM:608227
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia, Tracheomalaci... OMIM:620155
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Short neck, Micrognathia, Large fontanelles, Depressed nasal ridge, Gingival fi... ORPHA:1832
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Generalized ... ORPHA:354
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... ORPHA:99802
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Severe short st... OMIM:184250
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d... OMIM:605274
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Corneal opacity, Short stature, Spinal canal stenosis, Cardiomyo... ORPHA:93476
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Osteoporosis, Abnormal vitreous hu... ORPHA:2788
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Convex nasal ridge, Micrognathia, Micromelia, Abn... ORPHA:666
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Microcephaly, Gliosis, Developmental cataract ORPHA:357225
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Small for gestational age, Wormian bones, Decreased fibular diamet... OMIM:616897
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... OMIM:207410
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Alopecia, Short stature, Accessory oral frenulum, Hypertelorism, Osteolysis involving... ORPHA:88630
Myopathy, Tubular Aggregate, 1
Joint contracture, Abnormal pupil morphology, Flexion contracture OMIM:160565
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... ORPHA:37553
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proxi... OMIM:190350
Noonan Syndrome 10
Curly hair, Ventricular septal defect, Short stature, Prominent corneal nerve fibers, Short neck,... OMIM:616564
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Relative macrocephaly, Osteopenia, Anteverted nares, Depressed nasal bridge, Hypertelorism, Bulbo... OMIM:271510
Osteogenesis Imperfecta, Type I
Otosclerosis, Biconcave flattened vertebrae, Femoral bowing, Mitral valve prolapse, Hip dysplasia... OMIM:166200
Mucopolysaccharidosis, Type X
Aortic regurgitation, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyp... OMIM:619698
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Thick ... ORPHA:79345
Short Syndrome
Enlarged epiphyses, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age, Micro... OMIM:269880
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Abnorma... ORPHA:209956
3C Syndrome
Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Abnormality of the fontanelles or c... ORPHA:7
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... ORPHA:169186
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Abnorm... ORPHA:192
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Coarse hair, Narrow greater sciatic notch, Widel... OMIM:253220
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal p... OMIM:616108
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Decreased muscle mass, High, narrow... ORPHA:1900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, Microgn... ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... OMIM:613154
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormal pelvic girdle bone morphology,... ORPHA:1133
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Short stature, Depressed nasal bridge, Hype... ORPHA:261295
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Wide ant... OMIM:619339
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Lipodystrophy OMIM:619858
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Microcornea, High palate, Atrial septal defect, Abnormal anterior chamber morp... OMIM:601776
Retinopathy Of Prematurity
Tractional retinal detachment, Small for gestational age, Retinal arteriolar tortuosity, Abnormal... ORPHA:90050
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Congestive heart failure, Quadriceps muscle weakness, D... ORPHA:206546
Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:98853
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Wide anterior fontanel, Synophrys, Deeply set eye, Long eyelashes OMIM:619064
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Hypertelorism, Congestive h... OMIM:314400
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulea... ORPHA:67036
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Poster... OMIM:602482
Melnick-Needles Syndrome
Micrognathia, Anisospondyly, Short stature, Hypertelorism, Abnormal rib morphology, Cone-shaped e... ORPHA:2484
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia, Wide anterior fontanel OMIM:275100
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Microcephaly, Abnormal nasal morphology, EE... ORPHA:578
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Kniest Dysplasia
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... ORPHA:485
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Adult onset sensorineural hearing impairment, Sensory axonal neuropathy ORPHA:329314
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Short femur, Foot oligodactyly, Scoliosis, Amelia OMIM:601357
Pseudodiastrophic Dysplasia
Smooth philtrum, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, ... OMIM:264180
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... OMIM:215150
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... OMIM:300434
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Pneum... ORPHA:309288
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Failure to thrive, Lipodystrophy, Brachydactyly OMIM:618048
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Short stature, Depressed nasal bridge,... OMIM:165800
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Wieacker-Wolff Syndrome
Proximal placement of thumb, Short neck, Micrognathia, High palate, Short stature, Anteverted nar... OMIM:314580
Cleidocranial Dysplasia 2
Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... OMIM:620099
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Cataract, Premature ovarian insufficiency, Female h... OMIM:240300
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Mulibrey Nanism
Dental crowding, Corneal dystrophy, Cardiomegaly, Absent frontal sinuses, Pericardial constrictio... OMIM:253250
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Short sta... OMIM:602782
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... OMIM:617402
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Short neck, Low anterior hairline, Coxa vara, ... ORPHA:800
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... ORPHA:435651
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Microcephaly, Broad nasal tip, ... OMIM:619420
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Hypotelorism, De... ORPHA:649
Larsen-Like Syndrome
Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Radial deviation of the 4th finger, Talipe... OMIM:608545
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Hypogonadism, Shor... OMIM:302950
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Zimmermann-Laband Syndrome 3
Thick hair, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Synophry... OMIM:618658
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Hypertelorism, Delayed epiphyseal ... ORPHA:166016
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Weill-Marchesani Syndrome 3
Short stature, Ectopia lentis, Ocular hypertension, Microspherophakia, Shallow anterior chamber, ... OMIM:614819
Neonatal Marfan Syndrome
Long toe, Iridodonesis, Tricuspid regurgitation, Arachnodactyly, Lipoatrophy, Micrognathia, Ectop... ORPHA:284979