Gene Summary

Name:
calcium activated nucleotidase 1
Synonyms:
D11Bwg0554e,  Apy1h,  5830420C20Rik,  SCAN-1,  Shapy

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Cant1tm1b(EUCOMM)Hmgu HET Early adult 5.94×10-05
abnormal retina morphology Cant1tm1b(EUCOMM)Hmgu HET   Early adult 5.91×10-07
abnormal vitreous body morphology Cant1tm1b(EUCOMM)Hmgu HET Early adult 1.87×10-06
abnormal tail morphology Cant1tm1b(EUCOMM)Hmgu HOM   Early adult 6.70×10-06
abnormal optic disk morphology Cant1tm1b(EUCOMM)Hmgu HET   Early adult 2.55×10-05
decreased total retina thickness Cant1tm1b(EUCOMM)Hmgu HET Early adult 5.79×10-05
abnormal lens morphology Cant1tm1b(EUCOMM)Hmgu HET Early adult 1.35×10-09
increased circulating lipase level Cant1tm1b(EUCOMM)Hmgu HET Early adult 2.09×10-08
preweaning lethality, incomplete penetrance Cant1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00728
abnormal retina vasculature morphology Cant1tm1b(EUCOMM)Hmgu HET Early adult 1.15×10-09
increased startle reflex Cant1tm1b(EUCOMM)Hmgu HET   Early adult 6.34×10-07
increased circulating amylase level Cant1tm1b(EUCOMM)Hmgu HET Early adult 1.71×10-07
abnormal tail length Cant1tm1b(EUCOMM)Hmgu HOM   Early adult 5.01×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Electrocardiogram (ECG)

Waveform Image

24 Images

Immunophenotyping

Panel A FCS file(s)

2 Images

Immunophenotyping

Panel B FCS file(s)

2 Images

Human diseases caused by Cant1 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 Cant1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cant1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Upington Disease
Flattened femoral head, Multiple enchondromatosis, Broad femoral neck, Arthralgia of the hip OMIM:191520
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Optic Atrophy 2
Optic atrophy, Tremor OMIM:311050
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... ORPHA:2114
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract, Tremor OMIM:165300
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb OMIM:618453
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosis, Abnormal form o... ORPHA:40
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s... OMIM:156530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia OMIM:613154
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular f... OMIM:618728
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... OMIM:609223
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... ORPHA:93314
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Short stature, Osteopenia, Dense metaphyseal bands, Int... ORPHA:50811
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis morphology ORPHA:93304
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Optic Atrophy 5
Optic atrophy OMIM:610708
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Elevated circulating creatine kinase concentration, Cone dystrophy OMIM:268040
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... OMIM:222600
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho... ORPHA:429
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Legg-Calvé-Perthes Disease
Cartilage destruction, Short stature ORPHA:2380
Ollier Disease
Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Abnormal m... ORPHA:296
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Reduced bone mineral density, Sh... ORPHA:2370
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... ORPHA:85198
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Severe short stature, Abnormal morpholo... ORPHA:3344
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Short stature, Brachyd... OMIM:226900
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Winchester Syndrome
Broad metacarpals, Kyphosis, Generalized osteoporosis, Carpal osteolysis, Osteolysis involving ta... OMIM:277950
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... OMIM:616583
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Disproportionate short-trunk short stature, Hip subluxation... ORPHA:99642
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow... OMIM:112350
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy OMIM:617087
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft verte... OMIM:256050
Kniest Dysplasia
Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplastic pelvis, Rhizom... OMIM:156550
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... OMIM:609052
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... OMIM:183849
Short Stature, Brussels Type
Delayed epiphyseal ossification, Growth delay, Calcification of cartilage, Short stature ORPHA:2867
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Increased level of D-threitol in plasma, Elevated circulating ribitol concentration OMIM:608611
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Congenital Bowing Of Long Bones
Bowing of the long bones, Hyperlordosis ORPHA:2292
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Distal Arthrogryposis Type 1
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlappi... ORPHA:1146
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Scapular winging, Distal joint laxity OMIM:616471
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Short stature OMIM:618392
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Lethal Kniest-Like Dysplasia
Severe short-limb dwarfism, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinov... ORPHA:2347
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Short stature, Osteopenia, Metaphyseal striations, Shor... OMIM:608154
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Bruck Syndrome 1
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly, Scoliosi... OMIM:259450
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Disproportionate short-limb short stature, Lumbar hyperlordosis, Metaphyseal ... OMIM:608728
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Short stature, Short neck, Abno... ORPHA:3098
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, T... ORPHA:166011
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... OMIM:604393
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... OMIM:607326
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Severe short-limb dwarfism, Brachydactyly, Scoliosis, Bilateral single transvers... ORPHA:968
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:93359
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Small epiphyses, S... OMIM:184260
Widow'S Peak Syndrome
Kyphosis, Short stature, Abnormality of the hand, High iliac wing, Arthralgia of the hip, Hip ost... OMIM:314570
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... OMIM:184252
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia OMIM:616859
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t... OMIM:313420
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Diastrophic Dysplasia
Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of finger, Abnorma... ORPHA:628
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy, Dystonia ORPHA:385
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Short stature, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... OMIM:619598
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Short stature, Radi... ORPHA:2725
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Multiple small vertebral fractures, Back pain, Osteoart... ORPHA:93311
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Flexion contracture, Overlapping fingers, Congenital hip dislocati... OMIM:618291
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis, Dystonia OMIM:271930
Thoracomelic Dysplasia
Disproportionate short-limb short stature, Short neck, Hyperlordosis, Abnormality of fibula morph... ORPHA:1803
Ruvalcaba Syndrome
Kyphosis, Short stature, Small hand, Micromelia, Short phalanx of finger, Limited elbow extension... OMIM:180870
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Acromesomelic Dysplasia 1
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... OMIM:602875
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Achondroplasia
Rhizomelia, Short long bone, Spinal canal stenosis, Narrow greater sciatic notch, Hip joint hyper... ORPHA:15
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Severe short stature, Short metacarpal, Cone-shaped epiphysis,... OMIM:102370
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Peripapil... OMIM:616188
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... OMIM:612847
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Slender long bone, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... ORPHA:2840
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Progressive Pseudorheumatoid Dysplasia
Coxa vara, Joint stiffness, Kyphoscoliosis, Enlarged metacarpophalangeal joints, Joint contractur... OMIM:208230
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Short stature, Broad distal phalanx... ORPHA:93430
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Increased su... OMIM:130060
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... OMIM:200700
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Kyphosis, Short stature, Brachydactyly, Scoliosis, Hypoplastic il... ORPHA:1858
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Disproportionat... ORPHA:94068
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Short stature, Slender long bone, Thin bony co... OMIM:619795
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Mucolipidosis Iii Gamma
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Flared iliac wing, Short stature, Abno... OMIM:252605
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Kniest Dysplasia
Flexion contracture of finger, Short neck, Platyspondyly, Disproportionate short-trunk short stat... ORPHA:485
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short stature, Osteopenia, Avascular n... OMIM:190351
Brachyolmia Type 3
Kyphosis, Short neck, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Proximal femora... OMIM:113500
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Disproportionate short-limb short stature, Delayed ossification of carpal bones,... OMIM:127200
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation, Short stature ORPHA:85288
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... OMIM:619489
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... ORPHA:1427
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy, Generalized... OMIM:619389
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Short neck, Pl... OMIM:615222
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... OMIM:614326
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly... ORPHA:2771
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Kyphosis, Disproportionate short-limb... OMIM:259420
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Roc... OMIM:618393
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, Flexion contracture, Absent distal phalanx... OMIM:618658
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Postural tremor, Retinal vascular tortuosity ORPHA:104
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Brachydactyly, Ost... OMIM:234250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Short... OMIM:301900
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Kyphoscoliosis, Arthrogryposis multiplex congenita OMIM:212540
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density, Scoliosis, Slender long bone, Hyperlordosis ORPHA:262
Camptodactyly Syndrome, Guadalajara, Type Ii
Talipes equinovarus, Short stature, Osteopenia, Camptodactyly of finger, Short neck, Brachydactyl... OMIM:211920
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... ORPHA:3409
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Slender finger, Increased laxity of fingers, Adducted thumb, Flexion contracture, Spina... ORPHA:75840
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Knee flexion contractur... OMIM:615290
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Tapered finger, ... ORPHA:970
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Arachnodactyly, Bilateral single transverse palmar creases, Scoliosis ORPHA:1548
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Rhizomelic Chondrodysplasia Punctata, Type 3
Disproportionate short-limb short stature, Short femur, Short humerus, Rhizomelia, Epiphyseal sti... OMIM:600121
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ly... OMIM:601376
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Short stature, Anterior beaking of lumbar vertebrae, Platyspondyly, ... OMIM:230650
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:612572
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnormal m... ORPHA:1354
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, ... OMIM:204000
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Optic atrophy, Cataract OMIM:204200
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Elbow flexion contracture OMIM:600175
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, Severe short stature, Short phalanx of finger, Intrauterine gro... OMIM:618724
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metacarpal, Flexio... OMIM:215150
Arthrogryposis, Distal, Type 3
Overlapping toe, Decreased hip abduction, Lumbar hyperlordosis, Talipes equinovarus, Kyphoscolios... OMIM:114300
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... ORPHA:321
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... OMIM:184250
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Arthrogryposis, Distal, Type 4
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Deviation of the 2nd ... OMIM:609128
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th... ORPHA:1486
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Disproportionate short-limb short stature, Decreased calvarial oss... OMIM:259440
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Short neck, Platyspondyly, Small epiphyses, Short long bone, Disproportionate s... OMIM:611717
Chromosome 16P13.3 Duplication Syndrome
Short toe, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Proximal placeme... OMIM:613458
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Short stature, Micromelia, Abnorma... ORPHA:1508
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Short stature OMIM:620007
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of ... ORPHA:3454
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Talipes equinovarus, Hand clenching, Short neck, Scoliosis, Single transverse palmar cr... OMIM:611890
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Abnormality of the vertebral column, Palmoplanta... ORPHA:2206
Multiple Epiphyseal Dysplasia With Robin Phenotype
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... OMIM:601560
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Wide anterior fontanel, Kyphosis, Type 1 colla... OMIM:610915
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Talipes equinovarus, Abnormal cartilage matrix, Abnormal bone str... ORPHA:86822
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Short stature, Femoral bowing, Osteopenia, Scoliosis, Increased susceptibili... OMIM:615066
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Masa Syndrome
Kyphosis, Talipes equinovarus, Short stature, Adducted thumb, Hyperlordosis OMIM:303350
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Short stature, Scoliosis, Hip dislocation OMIM:616756
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Optic atrophy, Optic disc pallor, Choreoat... ORPHA:98890
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
3M Syndrome
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Short stature, Congenital h... ORPHA:2616
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Scoliosis, Tapered finger, Large hands ORPHA:276630
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Thanatophoric Dysplasia
Joint stiffness, Kyphosis, Intrauterine growth retardation, Disproportionate short-limb short sta... ORPHA:2655
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Hemidystonia OMIM:619052
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dystonia ORPHA:1171
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Talipes equinovarus, Joint contracture of ... ORPHA:536516
Chromosome 8Q22.1 Duplication Syndrome
Broad metacarpals, Cervical C2/C3 vertebral fusion, Joint stiffness, Limitation of joint mobility... OMIM:151200
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase, Dys... ORPHA:401768
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Three M Syndrome 1
Growth delay, Increased vertebral height, Clinodactyly of the 5th finger, Postnatal growth retard... OMIM:273750
Camos Syndrome
Optic atrophy ORPHA:83472
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia OMIM:252650
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Desbuquois Dysplasia 2
Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Single transverse pa... OMIM:615777
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Constricted iliac wing, Metaphyseal ... OMIM:253010
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Severe short stature, F... OMIM:618853
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Kyphoscoliosis, Adducted thumb, Short stature, Flared metaphysis, Camptod... OMIM:610758
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebrae, Short ne... OMIM:253000
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormal pelvic ... ORPHA:1509
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Kyphosis, Short femur, Femoral bowing, Hypoplastic ilia,... ORPHA:1860
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility, Abnormal cort... OMIM:300831
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Short neck, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
Optic Atrophy 9
Optic atrophy OMIM:616289
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Sheldon-Hall Syndrome
Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Sho... ORPHA:1147
Three M Syndrome 3
Increased vertebral height, Clinodactyly of the 5th finger, Short stature, Short neck, Slender lo... OMIM:614205
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Scoliosis, Abnormal form... ORPHA:263463
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Short stature, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga OMIM:132450
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Tremor, Aplasia/Hypoplasia of the macula, Abnormality of the optic nerve, Macular ... ORPHA:33445
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Flexion contracture, Short neck, Scoliosis, Single transverse palmar crease, Clinodacty... ORPHA:178148
Anauxetic Dysplasia 1
Short neck, Platyspondyly, Rhizomelia, Small epiphyses, Cervical subluxation, Intrauterine growth... OMIM:607095
Spinocerebellar Ataxia 7
Optic atrophy, Tremor, Pigmentary retinopathy, Macular degeneration OMIM:164500
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Holt-Oram Syndrome
Joint stiffness, Kyphosis, Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Scol... ORPHA:392
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Dystonia OMIM:615338
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Dystonia, Craniofacial dystonia OMIM:617282
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... OMIM:245160
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... OMIM:194350
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Hsd10 Mitochondrial Disease
Optic atrophy, Choreoathetosis, Elevated circulating tiglylglycine concentration, Retinal degener... OMIM:300438
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Horizontal sacrum, Tombstone-shaped proximal p... OMIM:108721
Joubert Syndrome 18
Kyphoscoliosis, Polydactyly, Camptodactyly, Joint laxity, Intrauterine growth retardation OMIM:614815
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:613810
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Retinopathy, Optic atrophy, Tremor, Limb dystonia, Focal dystonia ORPHA:216873
Atkin-Flaitz Syndrome
Kyphosis, Short stature, Scoliosis, Tapered finger, Broad palm, Genu valgum, Joint laxity, Short ... OMIM:300431
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Short stature, Femoral bowing, Osteopenia, Short neck, Platysp... OMIM:616723
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract OMIM:617255
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Adducted thumb, Arachnodactyly, Shoulder dislocation, Scoliosis, Joint hyperflexibility ORPHA:2181
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Familial Calcium Pyrophosphate Deposition
Osteoarthritis, Arthritis, Calcification of cartilage, Abnormal intervertebral disk morphology, L... ORPHA:1416
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abn... ORPHA:2928
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Massively thickened long bone cortices, Short stature, Brachydactyly, Micromelia,... OMIM:122900
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Short stature, Short neck, Platysp... ORPHA:582
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Ruvalcaba Syndrome
Kyphosis, Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Micromelia, Synostos... ORPHA:3121
Alpha-Mannosidosis
Kyphosis, Short neck, Scoliosis, Synostosis of joints, Arthritis, Hypoplastic inferior ilia, Bowi... ORPHA:61
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Merrf
Optic atrophy ORPHA:551
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Postural tremor, Abnormal circulating cholesterol concentration, Cataract OMIM:270800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy ORPHA:329314
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Kyphosis, Joint laxity OMIM:248760
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Cdkl5-Deficiency Disorder
Kyphosis, Broad proximal phalanges of the hand, Scoliosis, Hallux valgus, Growth delay ORPHA:505652
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Talipes equinovarus, Flexion contracture... OMIM:618484
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Short stature, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the cer... ORPHA:48431
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynostosis, Osteopen... ORPHA:536467
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:616469
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Action tremor, Elevated circulating creatine kinase concentration, Sensory axonal... ORPHA:254886
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Distal upper limb amyotrophy ORPHA:101075
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Neonata... OMIM:183900
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... OMIM:600132
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Broad thumb, Shor... OMIM:619638
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Severe short stature, Femoral bowing, Osteopenia, Platyspondyly, Scoliosis, ... OMIM:126550
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... ORPHA:67042
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Clark-Baraitser syndrome
Kyphosis, Scoliosis, Tapered finger, Broad palm, Genu valgum, Joint laxity, Short palm OMIM:300602
Acromesomelic Dysplasia 4
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... OMIM:619636
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy OMIM:615035
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Severe ... ORPHA:1005
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Grant Syndrome
Short stature, Abnormality of the glenoid fossa, Decreased skull ossification, Bowing of the long... ORPHA:2097
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy, Dystonia OMIM:614702
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Disproportionate short-limb short stature, Talipes equinovarus, Bil... OMIM:609441
Carpenter Syndrome
Kyphoscoliosis, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Po... ORPHA:65759
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Blepharospasm, Retinal degeneration, A... OMIM:604290
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Scoliosis, Short foot, Clinodactyly, Joint hypermobility, Postnatal growth retardatio... ORPHA:254531
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Congenital hip dislocation, Scolio... OMIM:300280
Chondrodysplasia-Disorder Of Sex Development Syndrome
Increased skull ossification, Severe short stature, Micromelia, Short phalanx of finger, Abnormal... ORPHA:1422
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... OMIM:618150
Hypomelanosis Of Ito
Kyphosis, Scoliosis, Syndactyly, Radial deviation of finger, Clinodactyly, Hand polydactyly OMIM:300337
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbel... ORPHA:56304
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone ORPHA:1506
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Postnatal growth retar... OMIM:614732
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Short stature, Osteopenia, Scoliosis, Biconcave vertebral bodies, Prot... OMIM:610968
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Intention tremor, ... OMIM:612674
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Dystonia, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Leber Optic Atrophy And Dystonia
Optic atrophy, Dystonia, Leber optic atrophy, Athetosis OMIM:500001
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... ORPHA:353298
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Avascular nec... OMIM:184100
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Short stature, Genu valgum, Generalized bone deminer... ORPHA:3101
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor OMIM:614947
Cornelia De Lange Syndrome 2
Short stature, Small hand, Short neck, Brachydactyly, Limited elbow movement, Short foot, Clinoda... OMIM:300590
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Cole-Carpenter Syndrome