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 |