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Gene: Cant1 MGI:1923275

Gene Summary

Name:

calcium activated nucleotidase 1

Synonyms:

D11Bwg0554e, Apy1h, 5830420C20Rik, SCAN-1, Shapy

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tail length	Cant1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.01×10^-05
preweaning lethality, incomplete penetrance	Cant1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00728
decreased total retina thickness	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.79×10^-05
increased circulating amylase level	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.71×10^-07
abnormal retina vasculature morphology	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.15×10^-09
abnormal tail morphology	Cant1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.70×10^-06
increased circulating lipase level	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.09×10^-08
abnormal retina morphology	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.91×10^-07
abnormal lens morphology	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.35×10^-09
increased startle reflex	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.34×10^-07
abnormal optic disk morphology	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.55×10^-05
increased circulating alkaline phosphatase level	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.94×10^-05
abnormal vitreous body morphology	Cant1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.87×10^-06

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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.

Electrocardiogram (ECG)

Waveform Image

24 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Immunophenotyping

Panel B FCS file(s)

2 Images

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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.

Human diseases associated with Cant1 (3 diseases)
Human diseases predicted to be associated with Cant1 (1136 diseases)

The table below shows human diseases associated to Cant1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra...	OMIM:617719
Desbuquois Syndrome	Severe short stature, Camptodactyly of finger, Short neck, Coxa valga, Elbow dislocation, Small h...	ORPHA:1425

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

Disease	Matching phenotypes	Source
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis	OMIM:168400
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Optic Atrophy 2	Tremor, Optic atrophy	OMIM:311050
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f...	ORPHA:2114
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff...	OMIM:132400
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr...	ORPHA:40
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short toe, Abnormal long bone morphology, Growth delay, Abnormal pelvic girdle bone morphology, S...	OMIM:259270
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,...	OMIM:609223
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Osteopenia, Short stature, Slender long bones with narrow diaphyses, Int...	ORPHA:50811
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Legg-Calvé-Perthes Disease	Cartilage destruction, Short stature	ORPHA:2380
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morpholo...	ORPHA:85198
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr...	OMIM:616583
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv...	ORPHA:2370
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte...	OMIM:256050
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage...	OMIM:156550
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit...	OMIM:226900
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous...	OMIM:600384
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy	OMIM:108650
Ribose 5-Phosphate Isomerase Deficiency	Optic atrophy, Increased level of D-threitol in plasma, Elevated circulating ribitol concentration	OMIM:608611
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Short Stature, Brussels Type	Growth delay, Delayed epiphyseal ossification, Short stature, Calcification of cartilage	ORPHA:2867
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy	OMIM:609055
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor...	OMIM:618392
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Optic atrophy	OMIM:618511
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Bethlem Myopathy 2	Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Flared metaphysis, Knee osteoarthritis, Flattened epiphysis, Tibi...	ORPHA:93356
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r...	OMIM:313400
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the humerus, Kyphosis, Preax...	ORPHA:3098
Spasticity, Childhood-Onset, With Hyperglycinemia	Optic atrophy, Hyperglycinemia	OMIM:616859
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Short stature, Cubitus valgus, Genu valgum, Slender long bones with narrow diaphyses,...	OMIM:608154
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short st...	OMIM:184260
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le...	OMIM:608728
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Short neck, Mesomelic/rhizomelic limb shortening, ...	ORPHA:2347
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco...	OMIM:313420
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy	OMIM:618572
Spondylometaphyseal Dysplasia, Kozlowski Type	Elbow flexion contracture, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypop...	OMIM:184252
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy	OMIM:615043
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Spastic Paraplegia 57, Autosomal Recessive	Optic atrophy	OMIM:615658
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Zimmermann-Laband Syndrome 3	Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Patent ductus arteri...	OMIM:618658
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Diastrophic Dysplasia	Micromelia, Proximal placement of thumb, Abnormal form of the vertebral bodies, Symphalangism aff...	ORPHA:628
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Short stature, Broad femoral neck, Hyperlordos...	OMIM:615222
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Striatonigral Degeneration, Infantile	Choreoathetosis, Optic atrophy, Dystonia	OMIM:271930
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Achondroplasia	Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta...	OMIM:600175
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid...	OMIM:619598
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Lumb...	OMIM:602875
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Ruvalcaba Syndrome	Short metacarpal, Short stature, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal,...	OMIM:180870
Acromicric Dysplasia	Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot...	OMIM:102370
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long...	ORPHA:2840
Thoracomelic Dysplasia	Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hype...	ORPHA:1803
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Short stature, Talipes equinovarus, Congenital bilateral hip dislocation	ORPHA:85288
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra...	OMIM:610967
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ...	ORPHA:94068
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Mucolipidosis Iii Gamma	Short stature, Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral...	OMIM:252605
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d...	ORPHA:1858
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Generalized dystonia, Optic di...	OMIM:619389
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,...	OMIM:190351
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys...	ORPHA:485
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosi...	OMIM:612350
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Feingold Syndrome 2	Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,...	OMIM:614326
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flex...	ORPHA:75840
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Postural tremor, Retinal telangiectasia	ORPHA:104
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A...	ORPHA:2639
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis...	ORPHA:3409
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee fle...	OMIM:615290
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ...	OMIM:114300
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra...	OMIM:617719
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,...	OMIM:118651
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ...	ORPHA:1354
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:1548
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Joint contracture, Scoliosis	OMIM:611225
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Otospondylomegaepiphyseal Dysplasia	Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor...	ORPHA:1427
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn...	ORPHA:970
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia, Short stature	OMIM:620007
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem...	OMIM:204000
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Severe short stature, Intrauterine growth retardation, Broad phalanx, Short pha...	OMIM:618724
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphosis, Camptodac...	OMIM:609128
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormality of the ...	ORPHA:1486
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Optic Atrophy 6	Optic atrophy	OMIM:258500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Severe short stature, Ab...	ORPHA:93316
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy	ORPHA:1538
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy	ORPHA:320396
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Short neck, Kyphosis, Hip dysplasia, Talipes...	OMIM:611890
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract...	OMIM:615066
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Short stature, Kyphoscoliosis, Hyperlordosis, Coxa valga, Disproportionate short...	OMIM:618363
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Masa Syndrome	Short stature, Hyperlordosis, Kyphosis, Talipes equinovarus, Adducted thumb	OMIM:303350
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy	OMIM:611726
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Intrauter...	ORPHA:86822
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis	OMIM:616756
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ...	OMIM:151200
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Kyphosis, Large hands, Scoliosis	ORPHA:276630
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ...	OMIM:607634
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Rocker botto...	ORPHA:2616
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy, Dystonia	ORPHA:1171
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Intention...	ORPHA:98890
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar ...	OMIM:230650
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,...	OMIM:300831
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Flexion contractur...	OMIM:215150
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Short phalanx of finger, Genu ...	OMIM:615777
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis...	ORPHA:536516
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteri...	ORPHA:2655
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Anauxetic Dysplasia 3	Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis, Joint hypermobility, Metaph...	OMIM:618853
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic girdle bone morpho...	OMIM:123000
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Intention tremor	OMIM:620221
Camos Syndrome	Optic atrophy	ORPHA:83472
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration	OMIM:252650
Three M Syndrome 1	Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebral height, Postnatal...	OMIM:273750
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu...	OMIM:253000
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Hemidystonia	OMIM:619052
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis	ORPHA:505652
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra...	OMIM:194350
Cerebrooculofacioskeletal Syndrome 4	Short stature, Rocker bottom foot, Kyphoscoliosis, Camptodactyly of finger, Adducted thumb, Flare...	OMIM:610758
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ...	OMIM:607095
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ...	OMIM:618291
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Disproportionate short-trunk s...	ORPHA:263463
Spinocerebellar Ataxia 7	Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Coxopodopatellar Syndrome	Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp...	ORPHA:1509
Three M Syndrome 3	Short stature, Hyperlordosis, Short neck, Increased vertebral height, Growth delay, Slender long ...	OMIM:614205
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryp...	ORPHA:178148
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo...	ORPHA:392
Neuroectodermal Melanolysosomal Disease	Tremor, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of ...	ORPHA:33445
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplates, Fractures ...	OMIM:166600
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus...	OMIM:618484
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for...	ORPHA:140
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital disloca...	ORPHA:536467
Sheldon-Hall Syndrome	Short stature, Tarsal synostosis, Ulnar deviation of the wrist, Short neck, Joint stiffness, Bila...	ORPHA:1147
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec...	OMIM:108721
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Abnormal cartilage matrix	OMIM:245650
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Optic atrophy, Focal dystonia, Limb dystonia, Oromandibular dystonia, Retinopathy	ORPHA:216873
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hyperlordosis, Hypop...	OMIM:253010
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy	OMIM:618768
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Spinal canal stenosis, Advanced ossification of carpal bones,...	OMIM:614613
Familial Calcium Pyrophosphate Deposition	Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint mobility, Arthritis,...	ORPHA:1416
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplas...	ORPHA:61
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Hsd10 Mitochondrial Disease	Choreoathetosis, Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degener...	OMIM:300438
Developmental And Epileptic Encephalopathy 16	Optic atrophy, Dystonia	OMIM:615338
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Intrauterine growth re...	ORPHA:48431
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o...	ORPHA:3121
Spastic Paraplegia 5A, Autosomal Recessive	Postural tremor, Abnormal circulating cholesterol concentration, Cataract, Optic atrophy	OMIM:270800
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Cataract	ORPHA:329314
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal ...	ORPHA:582
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Optic atrophy, Dystonia, Mildly elevated creatine k...	ORPHA:401768
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Hypoplastic iliac wing, Abnor...	ORPHA:93315
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacar...	OMIM:619638
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Pos...	OMIM:613320
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Merrf	Optic atrophy	ORPHA:551
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Small hand, Short foot, Scoliosis, Intrauterine growth retardation,...	ORPHA:254531
Prune1-Related Neurological Syndrome	Retinopathy, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:544469
Autosomal Recessive Progressive External Ophthalmoplegia	Facial palsy, Elevated circulating creatine kinase concentration, Abnormal retinal morphology, Op...	ORPHA:254886
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl...	OMIM:126550
Aceruloplasminemia	Torticollis, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminem...	OMIM:604290
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi...	ORPHA:2928
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p...	ORPHA:65759
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Severe short stature, Joint stiffness, Kyphosis, Abnormality of...	ORPHA:1005
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Clark-Baraitser syndrome	Joint laxity, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Short palm	OMIM:300602
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Tracheobronchomalacia, Short phalanx of finger, Hypopl...	ORPHA:56304
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine growth retardation	ORPHA:1506
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Optic atrophy, Retinal degeneration	OMIM:256730
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio...	ORPHA:1422
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Kyphoscoliosis, Postaxial polydactyly, Ta...	OMIM:614815
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Bowing of the legs, Metaph...	OMIM:255800
L-2-Hydroxyglutaric Aciduria	L-2-hydroxyglutaric acidemia, Optic atrophy	OMIM:236792
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno...	ORPHA:2050
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu...	OMIM:602557
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Leber Optic Atrophy And Dystonia	Athetosis, Optic atrophy, Leber optic atrophy, Dystonia	OMIM:500001
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617082
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ...	OMIM:609541
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Shox-Related Short Stature	Short stature, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm un...	ORPHA:314795
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Intellectual Developmental Disorder, X-Linked 104	Tremor, Optic atrophy	OMIM:300983
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho...	ORPHA:93324
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnor...	OMIM:271665
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ...	ORPHA:85167
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Kyphoscoliosis,...	OMIM:614856
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibi...	OMIM:166220
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Optic atrophy, Dystonia	ORPHA:26792
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Optic atrophy	OMIM:619470
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia	OMIM:264470
Moebius Syndrome	Syndactyly, Brachydactyly, Short neck, Split hand, Abnormal pelvic girdle bone morphology, Arthro...	OMIM:157900
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Patent ductus arte...	OMIM:619797
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures...	OMIM:610968
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increa...	OMIM:609220
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Tremor, Optic atrophy, Oculogyric crisis, Dystonia	ORPHA:330050
Frank-Ter Haar Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnormal metacarpal mo...	ORPHA:137834
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Short stature, Bilateral single...	ORPHA:353298
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco...	OMIM:615349
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy	OMIM:619303
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Short metacarpal, Short stature, Single transverse pa...	OMIM:616651
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:588
Schaaf-Yang Syndrome	Short stature, Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Nar...	OMIM:615547
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Single transverse palmar crease, Metaphyseal widening, G...	ORPHA:536471
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy	OMIM:620314
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t...	OMIM:601356
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni...	OMIM:300232
Arthrogryposis, Distal, Type 5	Arachnodactyly, Short stature, Limited wrist extension, Decreased palmar creases, Kyphosis, Absen...	OMIM:108145
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Metaphyseal widening, Abnormal form of the vertebral bodies, Triang...	ORPHA:73230
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars...	OMIM:617102
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Postnatal growth reta...	OMIM:206920
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Short stature, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone m...	ORPHA:2522
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Peripheral axonal neuropathy, Optic atrophy	OMIM:617207
Pde4D Haploinsufficiency Syndrome	Joint laxity, Short metacarpal, Broad hallux, Postnatal growth retardation, Short toe, Caudal int...	ORPHA:439822
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia, Hyperlordosi...	ORPHA:1798
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Short neck, Metatarsus valgus, Kyphosis, Pos...	ORPHA:3082
Intellectual Developmental Disorder, Autosomal Dominant 26	Short stature, Decreased palmar creases, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Int...	OMIM:615834
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Wrist swelling, Limitation of joint mobility, Osteolysis, Slender long b...	ORPHA:2774
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Join...	ORPHA:93274
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Optic atrophy, Dystonia	OMIM:245349
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Leukodystrophy, Hypomyelinating, 21	Athetosis, Optic atrophy, Dystonia	OMIM:619310
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Optic atrophy	OMIM:609056
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Short stature, Osteoporosis	ORPHA:2786
Myotonia With Skeletal Abnormalities And Mental Retardation	Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis, Genu valgum	OMIM:255710
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300554
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta	ORPHA:2983
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Broa...	OMIM:300280
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dystonia, Hyperalaninemia, Sensory axonal neuropathy	ORPHA:254881
Sarcosinemia	Hypersarcosinemia, Optic atrophy	ORPHA:3129
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Short stature, Kyphoscoliosis, Recurrent fractures, Hip dislocation,...	OMIM:616507
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Arachnodactyly, Short stature, Coxa valga, Elbow dislocation, Metaphyse...	OMIM:620083
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis	ORPHA:1875
Marinesco-Sjogren Syndrome	Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Sco...	OMIM:248800
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic disc pallor, Optic atrophy	OMIM:617086
Greenberg Dysplasia	Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli...	OMIM:215140
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon...	OMIM:616294
Craniodiaphyseal Dysplasia	Optic atrophy	ORPHA:1513
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy	OMIM:258501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen...	OMIM:613154
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph...	OMIM:617425
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ...	ORPHA:1788
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista...	OMIM:615761
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2115
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Short stature, Scoliosis	OMIM:618124
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Autism Spectrum Disorder Due To Auts2 Deficiency	Short stature, Decreased palmar creases, Kyphosis, Narrow palm, Congenital contracture, Joint con...	ORPHA:352490
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Short stature, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of th...	ORPHA:77258
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d...	OMIM:249700
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scapul...	OMIM:181405
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Tremor, Abnormality of macular pigmentati...	ORPHA:97229
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Wide anterior fontanel, Ulnar bowing, Short...	OMIM:619135
Infantile Cerebellar-Retinal Degeneration	Athetosis, Optic atrophy, Retinal dystrophy	OMIM:614559
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Optic atrophy, Dystonia, Abnormal peripheral action potentia...	ORPHA:457205
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Cranio...	ORPHA:3219
Beta-Propeller Protein-Associated Neurodegeneration	Tremor, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia	ORPHA:329284
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy	OMIM:619425
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Disproportio...	ORPHA:583
15Q24 Microdeletion Syndrome	Joint laxity, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Ab...	ORPHA:94065
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Contractural Arachnodactyly, Congenital	Osteopenia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Pate...	OMIM:121050
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Dystonia	OMIM:618230
Deafness, Dystonia, And Cerebral Hypomyelination	Optic atrophy, Dystonia	OMIM:300475
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, K...	OMIM:231070
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short stature, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Cubitus v...	ORPHA:1185
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Optic disc pallor, Hyperprolinemia	OMIM:619170
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Infantile Refsum Disease	Cataract, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentration, Rod-cone...	ORPHA:772
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Small hand, Short foot, Slender long bone, Birth length less than 3r...	OMIM:244460
Wieacker-Wolff Syndrome	Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation,...	OMIM:314580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Disproportionate short stature, Flexion contracture, Irreg...	OMIM:222765
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr...	OMIM:253220
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:615042
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Tremor	ORPHA:99014
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Martsolf Syndrome 1	Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Short stature, Metatars...	OMIM:212720
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver...	ORPHA:2916
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom foot, Short neck, Kyp...	OMIM:301041
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Slender long bone, Decreased calvarial ossification, Arthrogrypo...	OMIM:618265
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Neonatal epiph...	OMIM:101800
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Vertebral segmentation defect, Hip dysplasia, Pol...	ORPHA:531151
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal fibula morpholog...	ORPHA:3035
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur...	OMIM:239000
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee flexion contract...	OMIM:601559
Desbuquois Syndrome	Severe short stature, Camptodactyly of finger, Short neck, Coxa valga, Elbow dislocation, Small h...	ORPHA:1425
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Sandal gap, Short stature, Kyphosis, Small hand, Short foot, Delayed puberty, Brach...	OMIM:300354
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio...	OMIM:254090
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin...	OMIM:108720
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Head titubation, Optic atrophy, Intention tremor	OMIM:618688
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt...	OMIM:619557
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,...	OMIM:300963
Peroxisome Biogenesis Disorder 8B	Cataract, Retinal dystrophy, Optic atrophy, Elevated circulating phytanic acid concentration, Lim...	OMIM:614877
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P...	OMIM:114290
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Abetalipoproteinemia	Retinopathy, Abetalipoproteinemia, Peripheral demyelination, Retinal degeneration	OMIM:200100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O...	OMIM:609033
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Spastic Paraplegia 85, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Torticollis	OMIM:619686
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Growth delay, Scoliosis...	ORPHA:238750
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip dislocation, Genu ...	ORPHA:171436
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Optic atrophy, Retinal dysplasia	ORPHA:272
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc...	ORPHA:508533
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Optic atrophy, Dystonia	OMIM:618238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Optic atrophy, Hyperammonemia, Dystonia	ORPHA:289916
Stickler Syndrome, Type I	Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthritis, Arthritis...	OMIM:108300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ...	OMIM:253800
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia	ORPHA:2801
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hyperlordosis, Kyphosis, Short toe, Brachydactyly	ORPHA:3085
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Wiedemann-Steiner Syndrome	Joint laxity, Sacral dimple, Short stature, Tapered finger, Postnatal growth retardation, Contrac...	OMIM:605130
Pycnodysostosis	Joint laxity, Brachydactyly, Increased bone mineral density, Rhizomelia, Hyperlordosis, Kyphosis,...	ORPHA:763
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis	ORPHA:1545
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Cleidocranial Dysplasia	Hypoplastic scapulae, Short stature, Down-sloping shoulders, Recurrent fractures, Tapered finger,...	ORPHA:1452
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Dystonia	OMIM:617183
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating creatine kinase concentration, Tremor, Optic atrophy, Retinopathy, Abnormal ...	OMIM:608799
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Sclerosteosis	Optic atrophy, Facial palsy	ORPHA:3152
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Dihydropyrimidinase Deficiency	Growth delay, Short phalanx of finger, Talipes equinovarus	OMIM:222748
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Proportionate short stature, Single ...	OMIM:210600
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Short stature...	OMIM:600373
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Myopathy, Centronuclear, 2	Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis, I...	OMIM:255200
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	ORPHA:370959
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b...	ORPHA:3429
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Tapered finger, Postnatal growth retardation, Hip dysplasia, Talipes equinovarus, Clinodactyly of...	OMIM:617219
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Marden-Walker Syndrome	Arachnodactyly, Short neck, Postnatal growth retardation, Kyphosis, Wide anterior fontanel, Radio...	OMIM:248700
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Peripheral axonal neuropathy, Elevated circulating creatine k...	OMIM:615673
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Intrauterine growth retardation	OMIM:618237
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Choreoat...	OMIM:608804
Moderate Hemophilia A	Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage	ORPHA:169805
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ...	ORPHA:289157
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Short st...	ORPHA:85293
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Subaortic Stenosis-Short Stature Syndrome	Short stature, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Synos...	ORPHA:3191
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Clinodactyly of the 5th finger, Intraute...	OMIM:608747
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300009
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finge...	ORPHA:2311
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Hyperlordo...	ORPHA:1328
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:85317
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Lopes-Maciel-Rodan Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	OMIM:617435
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short metacarpal, Toe syndactyly, Short stature, Scapular winging, Short metatarsal...	OMIM:170390
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Kyphoscoliosis, Severe generalized osteoporosis, Hypoplast...	OMIM:210730
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ...	OMIM:613848
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Cortical irregularity, Anterior concavity of thoracic verte...	OMIM:249420
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Optic atrophy, Hyperammonemia, Dystonia	OMIM:614739
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Choreoathetosis, Optic atrophy, Hyperammonemia, Dystonia	ORPHA:79312
Keutel Syndrome	Short stature, Calcification of cartilage, Short distal phalanx of finger	ORPHA:85202
Isolated Atp Synthase Deficiency	Cataract, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Rod-cone dystrophy	ORPHA:254913
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Upper limb hypertonia, Joint hyperflexibility	ORPHA:319199
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Ulnar deviation of the wrist, Epiphyseal stippling o...	ORPHA:56305
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand...	ORPHA:958
4H Leukodystrophy	Tremor, Cataract, Optic atrophy, Dystonia	ORPHA:289494
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Increased bone mineral...	OMIM:119600
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy	OMIM:613672
Baralle-Macken Syndrome	Kyphosis, Tapered finger	OMIM:619255
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Short stature, Severe short stature, Hyperlordosis, Short...	OMIM:612921
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Optic atrophy, Hyperammonemia, Dystonia	OMIM:614702
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy...	ORPHA:2976
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Short stature, Absent pubertal growth spurt, Kyphosis, Hip dislocation, Scoliosis	ORPHA:464282
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar...	OMIM:612394
Leukodystrophy, Hypomyelinating, 6	Tremor, Optic atrophy, Choreoathetosis, Dystonia	OMIM:612438
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Single transverse palmar crease, Scoliosis	OMIM:300861
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes ...	OMIM:616603
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Joint stiffness, Postnatal growth retardation, Short long bone, Scoliosis, ...	OMIM:619184
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
3-Methylglutaconic Aciduria, Type I	Athetosis, Optic atrophy, Dystonia	OMIM:250950
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Postnatal growth retardation, Punc...	OMIM:302960
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsu...	ORPHA:2479
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scol...	ORPHA:2617
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism	OMIM:619328
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc...	ORPHA:64755
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ...	OMIM:618476
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Mild short stature, Short 4t...	OMIM:169400
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Optic atrophy, Choreoathetosis, Hyperalaninemia	OMIM:618249
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Cubitus valgus, Kyp...	ORPHA:193
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, S...	ORPHA:192
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Patent ductus arteriosus, Osteoporosis, Deep palmar crease, Scoliosis...	OMIM:617190
Optic Atrophy 11	Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Athetosis, Cherry red spot of the macula,...	OMIM:617302
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Sin...	OMIM:619951
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation...	ORPHA:293843
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Sandhoff Disease	Kyphosis	ORPHA:796
Diencephalic Syndrome	Optic atrophy	ORPHA:1672
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Flexion contr...	ORPHA:3042
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy	ORPHA:352682
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Elevated circulating creatine kinas...	OMIM:614298
Hurler Syndrome	Hypoplasia of the femoral head, Short stature, Diaphyseal thickening, Short neck, Coxa valga, Hyp...	OMIM:607014
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Deep pal...	ORPHA:254346
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the...	OMIM:619269
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Canavan Disease	Optic atrophy, Increased circulating N-acetylaspartic acid concentration, Opisthotonus	OMIM:271900
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Optic atrophy, Intention tremor	ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 28	Truncal titubation, Optic atrophy	OMIM:618800
Marinesco-Sjögren Syndrome	Abnormal circulating creatine kinase concentration, Optic atrophy, Cataract	ORPHA:559
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Meier-Gorlin Syndrome 2	Short stature, Patellar aplasia, Birth length less than 3rd percentile, Slender long bone, Campto...	OMIM:613800
Marfanoid Habitus With Situs Inversus	Kyphosis, Arachnodactyly, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Hsd10 Disease, Infantile Type	Optic atrophy, Hyperammonemia, Choreoathetosis, Dystonia, Rod-cone dystrophy, Retinal degeneration	ORPHA:391428
Woods Syndrome	Lingual dystonia, Optic atrophy	OMIM:615236
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Rod-cone dystrophy	OMIM:617276
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap...	OMIM:208500
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Camptodac...	OMIM:265000
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Sjögren-Larsson Syndrome	Kyphosis, Short stature, Scoliosis, Joint stiffness	ORPHA:816
Gracile Bone Dysplasia	Short stature, Flared metaphysis, Slender long bone, Decreased skull ossification, Brachydactyly	OMIM:602361
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept...	OMIM:166200
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Elevated circulating hexacosanoic acid concentration, Optic atrophy, Athetosis...	OMIM:614388
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax...	ORPHA:93357
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Upper limb hypertonia	OMIM:614898
Behr Syndrome	Tremor, Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm	OMIM:210000
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy	ORPHA:254343
Sialidosis Type 2	Kyphosis, Flexion contracture, Short stature, Osteoporosis	ORPHA:87876
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Optic atrophy, Hyperammonemia	ORPHA:27
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Astigmatism, Titubation	ORPHA:459056
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Hurler-Scheie Syndrome	Short stature, Camptodactyly of finger, Joint stiffness, Thenar muscle atrophy, Kyphosis, Contrac...	OMIM:607015
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Atypical Rett Syndrome	Kyphosis, Small hand, Short foot, Growth delay, Scoliosis	ORPHA:3095
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Trisomy 9P	Sacral dimple, Brachydactyly, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Bi...	ORPHA:236
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Patent ductus a...	ORPHA:354
Mepan Syndrome	Axial dystonia, Dystonia, Hemidystonia, Optic atrophy, Limb dystonia, Craniofacial dystonia	ORPHA:508093
Cinca Syndrome	Papilledema, Elevated circulating C-reactive protein concentration	OMIM:607115
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal pelvic girdle bone morph...	ORPHA:3378
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration	OMIM:249270
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Short phalanx of finger, Typ...	OMIM:600430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture, Proximal muscle weakness in upper limbs	OMIM:618138
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Kypho...	ORPHA:2658
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy	OMIM:616811
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Dystonia, Sensor...	OMIM:258450
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphosc...	ORPHA:536532
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti...	ORPHA:1855
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Elbow dislocation, Kyphosis, Abnormal form of the vertebr...	ORPHA:2769
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Postnatal growth retardation, Wide anterior fontanel, Sh...	OMIM:225410
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Arteriosclerosis, Severe Juvenile	Short stature, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx...	OMIM:208060
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Srd5A3-Cdg	Optic atrophy, Rod-cone dystrophy, Optic disc hypoplasia, Cataract	ORPHA:324737
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Optic disc pallor	OMIM:615281
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Long palm, Scoliosis	OMIM:300676
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy	ORPHA:496790
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short f...	OMIM:618443
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hy...	OMIM:618493
Optic Pathway Glioma	Papilledema, Neurofibroma, Optic atrophy	ORPHA:2086
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Schwartz-Jampel Syndrome	Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abnormally ossified vertebrae, Incr...	ORPHA:800
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno...	ORPHA:261318
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior fontanel, Disprop...	OMIM:616482
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta...	OMIM:612199
3C Syndrome	Finger syndactyly, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hemivertebr...	ORPHA:7
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Wolfram Syndrome 1	Tremor, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:222300
Microphthalmia, Lenz Type	Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shou...	ORPHA:568
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Birk-Landau-Perez Syndrome	Optic atrophy, Hyperkalemia, Increased circulating creatine kinase MB isoform, Choreoathetosis, D...	OMIM:617595
Pantothenate Kinase-Associated Neurodegeneration	Dystonia, Abetalipoproteinemia, Bull's eye maculopathy, Optic atrophy, Craniofacial dystonia, Leg...	ORPHA:157850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should...	OMIM:606612
Prader-Willi Syndrome	Osteopenia, Syndactyly, Short stature, Kyphosis, Acromicria, Small hand, Osteoporosis, Narrow pal...	OMIM:176270
Schindler Disease, Type I	Optic atrophy	OMIM:609241
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Blepharospasm, Athetosis, Pigmentary retinopathy, Dystonia, Cra...	OMIM:617282
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Long palm, Tape...	ORPHA:2215
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Optic atrophy, Focal dystonia,...	ORPHA:52368
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Trapezoidal vertebral body, Short phalanx of ...	OMIM:600092
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Talipes cavus equi...	OMIM:300966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin...	OMIM:236670
Mcdonough Syndrome	Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:2471
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,...	OMIM:600920
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Kyphosis, Achilles tendon...	OMIM:620351
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Acro-Renal-Ocular Syndrome	Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Short stature, Kyphosis, Patent ductus arteriosus, Hypotrophy of...	OMIM:610443
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Kyphosis, Patent d...	OMIM:617061
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Short stature, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of th...	OMIM:617602
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:309246
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Mpdu1-Cdg	Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:79323
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa...	ORPHA:666
Madras Motor Neuron Disease	Optic atrophy, Facial palsy	ORPHA:137867
3Mc Syndrome 1	Sacral dimple, Single interphalangeal crease of fifth finger, Postnatal growth retardation, Wide ...	OMIM:257920
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Short neck, Kyphosis, Split hand, Flexion contracture, Mild ...	OMIM:309900
Neuronal Intranuclear Inclusion Disease	Optic atrophy	ORPHA:2289
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short stature, Postnatal growth retardation, Abnormal hand morphology, Small hand, Broad finger, ...	OMIM:300845
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contracture, Scolio...	ORPHA:314588
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move...	OMIM:203500
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos...	OMIM:127000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Tremor, Optic disc pallor, Pigmentary retinopathy, Mildly elevated creatine kinase	ORPHA:502423
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease...	ORPHA:96180
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Scolios...	OMIM:616894
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Hip dislocation, Short neck	OMIM:608776
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara...	OMIM:602535
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Postnatal growth retardati...	ORPHA:2834
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy	OMIM:614651
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per...	ORPHA:585
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Adult-Onset Still Disease	Cartilage destruction, Arthritis	ORPHA:829
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Optic atrophy, Motor axonal neuropathy, Hand tremor	ORPHA:289560
Mandibuloacral Dysplasia With Type B Lipodystrophy	Flexion contracture, Growth delay, Progressive clavicular acroosteolysis, Osteolytic defects of t...	OMIM:608612
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy	OMIM:615085
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Postnatal growth retardation, Sho...	OMIM:263750
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo...	ORPHA:98855
Mevalonic Aciduria	Optic disc pallor, Cataract, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:610377
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor, Dystonia	OMIM:617762
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Optic atrophy, Facial palsy	OMIM:611490
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Flynn-Aird Syndrome	Kyphosis, Bone cyst, Scoliosis, Joint stiffness	ORPHA:2047
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibilit...	ORPHA:96169
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Short neck, ...	ORPHA:98863
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Prominent crus of helix, Kyphosis, Broad distal phalanx of the toes,...	OMIM:619194
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo...	OMIM:276820
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal macular morphology	ORPHA:1493
Faciocardiomelic Syndrome	Osteopenia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypoplastic pelvis, T...	OMIM:612731
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,...	OMIM:304150
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Kyphosis, Patent ductus arteriosus, Scoliosis, Intraut...	OMIM:609029
Hajdu-Cheney Syndrome	Osteopenia, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short ...	ORPHA:955
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow...	ORPHA:93400
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dystoni...	ORPHA:845
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor	ORPHA:101076
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Noonan Syndrome 14	Scapular winging, Short stature, Short neck, Kyphosis, Deep palmar crease, Cubitus valgus, Clinod...	OMIM:619745
Autosomal Recessive Robinow Syndrome	Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilateral single trans...	ORPHA:1507
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t...	OMIM:618050
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr...	ORPHA:1724
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad...	ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Shoulder girdle muscle weakness, Scoliosis	OMIM:607155
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Optic atrophy, Dystonia	OMIM:618868
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Short stature, Aplasia/hypopla...	ORPHA:221016
Genitopalatocardiac Syndrome	Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine growth retardation, Brachydactyly	ORPHA:2075
Mucolipidosis Type Ii	Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard...	ORPHA:576
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus...	ORPHA:2232
Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo...	ORPHA:98853
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum	OMIM:258850
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Wide anterior fontanel	OMIM:618272
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly	ORPHA:261222
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Short stature, Metaphyseal scl...	ORPHA:221008
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Shor...	OMIM:616145
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Elevated circulating creatine kinase concentration	OMIM:618775
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,...	ORPHA:263508
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Cataract, Tremor, Developmental glaucoma, Optic ...	ORPHA:99956
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:251900
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy	OMIM:608688
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Long...	OMIM:616914
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Optic atrophy, Hypouricemia, Abnormality of somatosens...	ORPHA:1187
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of ...	ORPHA:476126
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Optic atrophy, Titubation	ORPHA:98768
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly	OMIM:619123
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Deviation of the 2...	ORPHA:464738
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retardation, Kyphosis, Wri...	OMIM:309000
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Short stature, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, H...	ORPHA:398069
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Rett Syndrome	Short foot, Kyphosis, Short stature, Scoliosis	OMIM:312750
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Postnatal growth retardation, Hemivertebrae...	OMIM:301040
2P15P16.1 Microdeletion Syndrome	Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, Growth delay,...	ORPHA:261349
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio...	OMIM:603116
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Rhizomelia, Short stature, Craniosynostosis, Short neck, Phalangeal cone-shaped epiph...	OMIM:266920
Bardet-Biedl Syndrome 20	Papilledema, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy	OMIM:619471
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Optic atrophy	OMIM:261680
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis	ORPHA:2396
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi...	ORPHA:1112
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Single transverse palmar crease, Kyp...	ORPHA:521426
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar...	OMIM:175780
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy	OMIM:617301
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremor, Optic...	OMIM:610505
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Xfe Progeroid Syndrome	Optic atrophy, Hypoalbuminemia, Corneal scarring, Attenuation of retinal blood vessels	OMIM:610965
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosio...	ORPHA:1764
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:616878
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:480864
Cerebrocostomandibular Syndrome	Short stature, Tracheomalacia, Kyphosis, Clinodactyly of the 5th finger, Intrauterine growth reta...	ORPHA:1393
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Growth delay, D...	ORPHA:77259
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal circulating cholesterol concentration, Cataract, Abnormality of centr...	OMIM:213700
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Wrinkly Skin Syndrome	Osteopenia, Scapular winging, Congenital hip dislocation, Short stature, Kyphosis, Wide anterior ...	OMIM:278250
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Osteoporosis, Scoliosis	OMIM:615381
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
Gm1-Gangliosidosis, Type I	Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scolio...	OMIM:230500
Jaberi-Elahi Syndrome	Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Joint hypermobility	OMIM:617988
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Long fingers, Kyphosi...	OMIM:617527
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R...	OMIM:259900
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Hyperalaninemia, Optic atrophy, Hypoalbuminemia	OMIM:618329
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis	OMIM:162300
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal form of the vertebral bodies, Intrauterine growth retar...	OMIM:194190
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ...	OMIM:263650
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Rod-cone dystrophy, Optic atrophy	OMIM:601539
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri...	OMIM:614077
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Short stature, Kyphosis, Osteoarthritis, Hip dislocation, Sp...	ORPHA:828
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Spli...	ORPHA:280
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Pelizaeus-Merzbacher Disease	Kyphosis, Short stature, Scoliosis, Joint stiffness	ORPHA:702
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Multiple joint contractures, Kyphos...	ORPHA:464306
Mgat2-Cdg	Osteopenia, Kyphosis, Patent ductus arteriosus, Scoliosis, Brachydactyly	ORPHA:79329
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Short stature, Kyphosis, Long fingers, Wide anterio...	ORPHA:401973
Marden-Walker Syndrome	Severe short stature, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adduct...	ORPHA:2461
Rhombencephalosynapsis	Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx	ORPHA:59315
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Dystonia	OMIM:250100
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Sandal gap, Short stature, Single transverse palmar cr...	OMIM:601358
16Q24.3 Microdeletion Syndrome	Kyphosis, Hip dysplasia, Proximal placement of thumb, Scoliosis	ORPHA:261250
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Optic atrophy, Head tremor	ORPHA:314404
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Delayed puberty, Joint hyper...	OMIM:619718
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia	OMIM:615574
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis	ORPHA:29207
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Patent ductus arteriosus, Short f...	ORPHA:464311
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Kyphosis, Short stature, Scoliosis	ORPHA:364028
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Recurrent fractures, Kyphosis, Osteoporo...	ORPHA:3063
Lateral Meningocele Syndrome	Vertebral fusion, Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Sclerosis of sku...	OMIM:130720
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis	OMIM:617011
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Ab...	ORPHA:636
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture of the ...	OMIM:618223
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Aplastic clavicle, Kyphosis, Wide anterior fontanel, Coronal craniosynostosis	ORPHA:85199
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cataract	OMIM:620327
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Biotinidase Deficiency	Conjunctivitis, Optic atrophy, Hyperammonemia	OMIM:253260
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Short 5th m...	ORPHA:881
Monosomy 9Q22.3	Short neck, Palmar pits, Kyphosis, Joint hyperflexibility, Abnormality of the vertebral column, P...	ORPHA:77301
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Kyphosis, Limitation of joint mobility, Osteo...	OMIM:133540
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness	ORPHA:293967
Autosomal Dominant Hypocalcemia	Writer's cramp, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Sandhoff Disease	Cherry red spot of the macula, Orthostatic hypotension, Exaggerated startle response	OMIM:268800
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Short stature, Single t...	OMIM:303600
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Single transverse palmar crease, 2-3 toe syndactyly, Scoliosis	OMIM:616449
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retardation	ORPHA:90322
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo...	ORPHA:2789
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Micro Syndrome	Short stature, Joint stiffness, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retarda...	ORPHA:2510
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Optic atrophy, Hypokalemia, Hypocalcemia	OMIM:617913
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Joint hypermobility, Me...	OMIM:259050
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Cockayne Syndrome	Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Intention tremor, Retinal atr...	ORPHA:191
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Short stature, Kyphosis, Long fingers, 2-3 toe synd...	OMIM:300960
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Overlapping fingers, Bilateral talipes equinovarus, Knee flexion contracture	OMIM:619708
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly...	ORPHA:363958
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Cockayne Syndrome A	Hip contracture, Short stature, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the ph...	OMIM:216400
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Finger syndactyly...	ORPHA:818
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Elevate...	ORPHA:91500
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Re...	ORPHA:90324
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,...	OMIM:308300
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi...	ORPHA:3404
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky...	ORPHA:558
Coffin-Siris Syndrome 1	Single transverse palmar crease, Prominent interphalangeal joints, Clinodactyly of the 5th finger...	OMIM:135900
Zttk Syndrome	Short stature, Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contracture, Hemiver...	OMIM:617140
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Patent ductus arteriosus, Intrauterine growth retardation	OMIM:619909
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P...	OMIM:192350
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Optic atrophy, Retinopathy	ORPHA:416
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:79255
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Short stature, Postnatal growth retardation, Long fingers, Patent ductus arteriosus, Ta...	OMIM:613355
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint...	ORPHA:457359
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Increased femoral anteversion, Scoliosis, Intrauterine growth retardation	OMIM:619005
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Kyphoscoliosis, Kyphosis, Patent ductus arteriosus, Scoliosis, Synos...	OMIM:300967
Alstrom Syndrome	Short stature, Abnormality of the hand, Kyphosis, Hyperostosis frontalis interna, Scoliosis	OMIM:203800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Oculocerebrorenal Syndrome Of Lowe	Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip dislocation, Gen...	ORPHA:534
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys...	ORPHA:97685
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Blepharospasm, Dystonia, Retinal ...	OMIM:234200
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Kyphosis, Scoliosis	OMIM:211530
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea...	ORPHA:892
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, K...	OMIM:606170
Osteopetrosis, Autosomal Recessive 7	Optic nerve compression, Optic atrophy, Hypocalcemic seizures	OMIM:612301
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands, Deep ...	ORPHA:963
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Joint stiffn...	ORPHA:744
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands, Deep ...	ORPHA:314769
1P36 Deletion Syndrome	Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Patent ductus arteriosus, Spin...	ORPHA:1606
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Cowden Syndrome 5	Kyphosis, Scoliosis, Palmoplantar hyperkeratosis	OMIM:615108
Cowden Syndrome	Short stature, Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Brachydactyly	ORPHA:201
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Leptospirosis	Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto...	ORPHA:509
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Craniosynostosis And Dental Anomalies	Hallux valgus, Broad hallux, Short stature, Sagittal craniosynostosis, 2-3 toe syndactyly, Corona...	OMIM:614188
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Cowden Syndrome 6	Kyphosis, Scoliosis, Palmoplantar hyperkeratosis	OMIM:615109
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Abnormality of th...	ORPHA:2273
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis	ORPHA:58
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Rett Syndrome, Congenital Variant	Kyphosis, Talipes equinovarus, Scoliosis	OMIM:613454
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Short stature, Tapered finger, Abnormal toe morphology, Kyphosis, P...	ORPHA:268261
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Kyphosis, Flexion contracture	OMIM:212065
Cowden Syndrome 1	Kyphosis, Scoliosis, Palmoplantar hyperkeratosis	OMIM:158350
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Williams Syndrome	Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of...	ORPHA:904
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Iris colo...	ORPHA:508498
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Joint laxity, Osteomyelitis, Single transverse palmar crease, Kyphosis, Abnormal curva...	OMIM:619475
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis...	OMIM:113620
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology, Astigmatism	ORPHA:96121
Viss Syndrome	Long toe, Joint laxity, Arachnodactyly, Rocker bottom foot, Short stature, Joint hypermobility, K...	OMIM:619472
Aspartylglucosaminuria	Joint laxity, Short stature, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Pathologic fractu...	OMIM:208400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia	ORPHA:438213
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short neck, Flexion contracture, Cam...	OMIM:601803
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos...	ORPHA:821
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Alström Syndrome	Thoracic scoliosis, Short stature, Kyphosis, Short toe, Hyperostosis frontalis interna, Lumbar sc...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cant1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cant1.

No publications found that use IMPC mice or data for Cant1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cant1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Cant1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cant1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cant1 MGI:1923275

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

Immunophenotyping

X-ray

X-ray

Immunophenotyping

Human diseases caused by Cant1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data