Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Bethlem Myopathy 2 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:616471 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... |
OMIM:617404 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:600175 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615290 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
OMIM:252605 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:618138 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis |
OMIM:618484 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Scoliosis |
ORPHA:75840 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:619040 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
OMIM:615084 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... |
OMIM:607155 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... |
OMIM:606612 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Alg1-Cdg |
|
Kyphosis, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... |
OMIM:601152 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Scoliosis, Short neck |
OMIM:611890 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
ORPHA:352447 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
OMIM:256600 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Mildly elevated creatine kinase |
ORPHA:536516 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Scoliosis, Increase... |
OMIM:300280 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:48431 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:98855 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Abnormal circulating lipid concentration, Scoliosis, Short neck |
ORPHA:3191 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98863 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... |
ORPHA:485421 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:98853 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:2617 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... |
ORPHA:171436 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:248800 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Pearson Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis |
OMIM:615834 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Scoliosis |
ORPHA:352490 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:229300 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Mildly elevated creatine kinase, Scoliosis, Spinal rigidity |
OMIM:254090 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis |
OMIM:619797 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1883 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Hyperuricemia |
ORPHA:261222 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Hypertriglyceridemia, Scoliosis |
OMIM:615381 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464282 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies |
ORPHA:628 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Sialidosis Type 2 |
|
Kyphosis |
ORPHA:87876 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:2311 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Sacral dimple, Thoracolumbar scoliosis, Hyperlordosis, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Flynn-Aird Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2047 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Mildly elevated creatine kinase |
OMIM:620351 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Hypokalemia, Biconcave vertebral bodies |
OMIM:219090 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:314580 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body, Hypocalcemia |
OMIM:618476 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
Schaaf-Yang Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615547 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Short neck |
ORPHA:3409 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Hyperlipidemia, Scoliosis, Short neck |
ORPHA:254346 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... |
OMIM:253010 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis |
OMIM:300354 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies |
OMIM:230500 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis |
OMIM:618443 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:94065 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2789 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Hyperuricemia, Scoliosis |
OMIM:203800 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Hypercholesterolemia, Scoliosis |
ORPHA:2479 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Trisomy 13 |
|
Kyphosis, Scoliosis |
ORPHA:3378 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Abnormal circulating creatine kinase concentration, Scoliosis |
ORPHA:2215 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis |
OMIM:617190 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Hypercalcemia, Scoliosis |
ORPHA:476126 |
Harrod Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2115 |
Gm1 Gangliosidosis |
|
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:354 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Scoliosis |
ORPHA:364028 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Pelger-Huet Anomaly |
|
Kyphosis |
OMIM:169400 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Scoliosis |
OMIM:617061 |
Emanuel Syndrome |
|
Kyphosis, Sacral dimple, Scoliosis |
OMIM:609029 |
Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Short neck |
OMIM:248700 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Trisomy 20P |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy... |
ORPHA:261318 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Scoliosis |
ORPHA:90322 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617988 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:96169 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Hurler-Scheie Syndrome |
|
Kyphosis, Scoliosis |
OMIM:607015 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:763 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Scoliosis |
OMIM:619951 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
OMIM:616449 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:85293 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis |
ORPHA:568 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:192 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... |
OMIM:607014 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy... |
ORPHA:800 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
Micro Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2510 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis |
OMIM:610443 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis |
OMIM:618493 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis |
ORPHA:536532 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis |
OMIM:300966 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis |
OMIM:301040 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Distal Triplication 15Q |
|
Kyphosis, Scoliosis |
ORPHA:314588 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617602 |
Noonan Syndrome 14 |
|
Kyphosis, Short neck |
OMIM:619745 |
2P15P16.1 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261349 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:500055 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Anterior clef... |
OMIM:265000 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky... |
OMIM:309000 |
Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Short neck |
OMIM:309900 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
2Q31.1 Microdeletion Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck |
ORPHA:251014 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
OMIM:618223 |
Alexander Disease |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:58 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Thoracic kyphos... |
OMIM:602535 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Cohen Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:193 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1969 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly |
ORPHA:1855 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
OMIM:616894 |
Weaver Syndrome |
|
Kyphosis, Scoliosis |
OMIM:277590 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464738 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... |
OMIM:143095 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:398069 |
Mgat2-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79329 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Scoliosis |
OMIM:618050 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol |
ORPHA:401973 |
Prader-Willi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:176270 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Kyphosis, Platyspondyly, Hypokalemia, Scoliosis, Hypophosphatemia, H... |
ORPHA:534 |
Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Short neck |
ORPHA:77301 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis |
OMIM:617527 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1507 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis |
ORPHA:521426 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Scoliosis |
OMIM:619005 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... |
ORPHA:3042 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple |
OMIM:620185 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the vertebral colu... |
ORPHA:280 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464311 |
Hajdu-Cheney Syndrome |
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Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies |
ORPHA:955 |
Triosephosphate Isomerase Deficiency |
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Kyphosis |
OMIM:615512 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464306 |
Smith-Lemli-Opitz Syndrome |
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Short neck, Kyphosis, Abnormal form of the vertebral bodies, Elevated circulating 7-dehydrocholes... |
ORPHA:818 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Kyphosis |
OMIM:619708 |
Classic Homocystinuria |
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Kyphosis, Scoliosis |
ORPHA:394 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervical spinal canal stenosis |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervical spinal canal stenosis |
ORPHA:363958 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Kyphosis, Scoliosis, Short neck |
OMIM:619194 |
Cleidocranial Dysplasia 1 |
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Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Poland Syndrome |
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Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2911 |
Marden-Walker Syndrome |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis |
OMIM:153400 |
X-Linked Intellectual Disability, Snyder Type |
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Kyphosis, Kyphoscoliosis |
ORPHA:3063 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Kyphosis, Abnormal curvature of the vertebral column, Hyperbilirubinemia, Scoliosis |
OMIM:619475 |
Ramon Syndrome |
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Kyphosis, Scoliosis |
OMIM:266270 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:457359 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Aspartylglucosaminuria |
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Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis |
OMIM:208400 |
Osteogenesis Imperfecta |
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Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... |
ORPHA:666 |
Camurati-Engelmann Disease |
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Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis |
ORPHA:1328 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Kyphosis |
ORPHA:85199 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis |
ORPHA:171629 |
Cockayne Syndrome |
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Kyphosis, Hyperuricemia, Scoliosis |
ORPHA:191 |
Cockayne Syndrome Type 3 |
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Kyphosis, Scoliosis |
ORPHA:90324 |
Zttk Syndrome |
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Kyphosis, Hemivertebrae, Scoliosis |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:300967 |
Mend Syndrome |
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Kyphosis, Sacral dimple |
OMIM:300960 |
Occipital Horn Syndrome |
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Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Kyphosis, Sacral dimple, Scoliosis |
ORPHA:268261 |
Lenz-Majewski Hyperostotic Dwarfism |
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Kyphosis, Scoliosis |
ORPHA:2658 |
Williams Syndrome |
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Sacral dimple, Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating crea... |
ORPHA:904 |
Stickler Syndrome |
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Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:828 |
Mucolipidosis Type Ii |
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Kyphosis |
ORPHA:576 |
Cerebrocostomandibular Syndrome |
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Kyphosis |
ORPHA:1393 |
Marfan Syndrome |
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Kyphosis, Scoliosis, Spondylolisthesis |
ORPHA:558 |
Cockayne Syndrome B |
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Kyphosis |
OMIM:133540 |
Cockayne Syndrome A |
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Kyphosis |
OMIM:216400 |
Cowden Syndrome |
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Kyphosis, Scoliosis |
ORPHA:201 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
OMIM:194190 |
1P36 Deletion Syndrome |
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Kyphosis, Spinal canal stenosis, Scoliosis |
ORPHA:1606 |
Coffin-Lowry Syndrome |
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Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:2273 |
Coffin-Siris Syndrome 1 |
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Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:135900 |
Neurofibromatosis Type 1 |
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Kyphosis, Scoliosis |
ORPHA:636 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Kyphosis, Scoliosis, Short neck |
ORPHA:99413 |
Turner Syndrome |
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Kyphosis, Scoliosis, Short neck |
ORPHA:881 |
Mosaic Monosomy X |
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Kyphosis, Scoliosis, Short neck |
ORPHA:99228 |
Monosomy X |
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Kyphosis, Scoliosis, Short neck |
ORPHA:99226 |
Acromegaly |
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Kyphosis, Spinal canal stenosis |
ORPHA:963 |
Somatomammotropinoma |
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Kyphosis, Spinal canal stenosis |
ORPHA:314769 |
17Q11 Microdeletion Syndrome |
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Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis |
ORPHA:97685 |
Proteus Syndrome |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:744 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Hypercalcemia, Kyphosis, Scoliosis, Abnormal vertebral morphology |
ORPHA:821 |
Primrose Syndrome |
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Kyphosis, Posterior scalloping of vertebral bodies, Elevated circulating alpha-fetoprotein concen... |
OMIM:259050 |
Wrinkly Skin Syndrome |
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Kyphosis, Scoliosis |
OMIM:278250 |
Viss Syndrome |
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Kyphosis, Butterfly vertebrae, Scoliosis |
OMIM:619472 |
Branchiooculofacial Syndrome |
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Hyperlordosis, Kyphosis, Short neck |
OMIM:113620 |
Yunis-Varon Syndrome |
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Kyphosis, Anterior concavity of thoracic vertebrae |
OMIM:216340 |
Alström Syndrome |
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Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Hyperlipidemia, Lumbar scoliosis |
ORPHA:64 |