Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Elevated circulating creatine kinase concentrat... |
OMIM:300718 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Myosclerosis, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Thoracolumbar scoliosis, Lumbar hyperlordosis... |
OMIM:255600 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Congenital Bowing Of Long Bones |
|
Hyperlordosis |
ORPHA:2292 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
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Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Thoracic kyphosis,... |
OMIM:609223 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Cardiomyopathy, Spinal ... |
OMIM:609308 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
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Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Elevated circulating creatine kinase concentration, Back pain, Hyperlordosis |
OMIM:618129 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:600175 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
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Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity, Hyperlordosis |
OMIM:617404 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
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Thoracic scoliosis, Lumbar hyperlordosis, Left ventricular hypertrophy, Elevated circulating crea... |
ORPHA:206546 |
Isolated Glycerol Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
ORPHA:408 |
Dystonia With Ringbinden |
|
Hyperlordosis |
OMIM:224550 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
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Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:280333 |
Myasthenic Syndrome, Congenital, 14 |
|
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis |
OMIM:616228 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Scoliosis, Hyperlordosis |
OMIM:617760 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis |
OMIM:607088 |
Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Scoliosis, Hyper... |
ORPHA:262 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
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Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Lumbar hyperlordosis |
OMIM:253320 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Dilated card... |
OMIM:160500 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
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Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:62 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral... |
ORPHA:577 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Rigid Spine Syndrome |
|
Scoliosis, Spinal rigidity, Hyperlordosis |
ORPHA:97244 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
Myopathy, Congenital, With Tremor |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Irregular vertebral endplates, Kyphoscoliosis, Scoliosis, Hyperlordosis, Abnormal vertebral morph... |
OMIM:618363 |
Mucolipidosis Iii Gamma |
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Kyphosis, Aortic valve stenosis, Increased serum beta-hexosaminidase, Short neck, Scoliosis, Hype... |
OMIM:252605 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613723 |
Hypochondroplasia |
|
Lumbar hyperlordosis |
OMIM:146000 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615290 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613818 |
Nemaline Myopathy 3 |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Dilated cardiomyopathy, Mildly elevated creatine kinase |
OMIM:161800 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Hyperlordosis |
ORPHA:352470 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:611588 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Hypochondroplasia |
|
Spinal canal stenosis, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Diastrophic Dysplasia |
|
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Cervical kyphosis, Hypoplastic cervical vertebrae |
OMIM:222600 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Micropenis, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Sco... |
OMIM:613156 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Hyperlordosis, Proteinuria |
ORPHA:1192 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis |
ORPHA:267 |
Anauxetic Dysplasia 2 |
|
Short neck, Cervical spine instability, Thoracolumbar kyphoscoliosis, Hyperlordosis, Ovoid verteb... |
OMIM:617396 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, C... |
OMIM:184100 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... |
OMIM:256050 |
Facioscapulohumeral Dystrophy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:269 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... |
ORPHA:1797 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Hypospadias, Scoliosis, Hyperlordosis, Sacral dimple |
OMIM:615761 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Horseshoe kidney, Scoliosis, Hyperlordosis |
OMIM:617352 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Vertebral... |
OMIM:606612 |
Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Lumbar hyperlordosis, Lumbar kyphosis in in... |
OMIM:100800 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis |
OMIM:610313 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Dilated c... |
OMIM:607155 |
Acrocapitofemoral Dysplasia |
|
Scoliosis, Ovoid vertebral bodies, Hyperlordosis |
ORPHA:63446 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular hypertrophy, Elevated circulating creatine kinase concentration, Scoliosis, Hyp... |
OMIM:253700 |
Mucopolysaccharidosis, Type X |
|
Nephrolithiasis, Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy... |
OMIM:619698 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Nemaline Myopathy 2 |
|
Mildly elevated creatine kinase, Scoliosis, Spinal rigidity, Hyperlordosis |
OMIM:256030 |
Nemaline Myopathy 7 |
|
Kyphoscoliosis, Lumbar hyperlordosis |
OMIM:610687 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Hypospadias, Abnormality of the ureter, Short neck, Hyperlordosis, Fused cervical verte... |
ORPHA:2522 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... |
OMIM:264180 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumbar hyperlo... |
ORPHA:99642 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Elevated circulating creatin... |
ORPHA:86812 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Kyphosis, Anterior beaking of lumbar vertebrae, Platyspon... |
OMIM:253000 |
King-Denborough Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Short neck, Scoliosis, Elevated circulating creatine kinase... |
OMIM:619542 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... |
ORPHA:98855 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Short neck, Scolio... |
ORPHA:98863 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Hyperlordosis |
ORPHA:369840 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... |
ORPHA:261 |
Jansen-De Vries Syndrome |
|
Hyperlordosis |
OMIM:617450 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Abnorma... |
OMIM:615980 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration, Right ventri... |
ORPHA:353 |
Myopathy, Centronuclear, 1 |
|
Mildly elevated creatine kinase, Hyperlordosis |
OMIM:160150 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process |
OMIM:184250 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:613157 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Scoliosis, Hyperlordosis, Thoracic kyphosis, Hypercalcemia, Nephrocalcinosis |
ORPHA:557003 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Back pain, Elevated circulating creatine kinase concentration |
OMIM:167320 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis, Mildly elevated creatine kinase |
ORPHA:536516 |
Ck Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis |
ORPHA:251383 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Increased vertebral height, Kyphoscoliosis, Hyperlordosis, Renal hypoplasia, Abnormal vertebral m... |
OMIM:616817 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... |
OMIM:313400 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hyperlordos... |
ORPHA:1159 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Abnormality of the vertebral column, Elevated circulating ... |
ORPHA:52430 |
Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
Multiple Metaphyseal Dysplasia |
|
Hyperlordosis |
ORPHA:93430 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Aortic valve stenosis, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies,... |
OMIM:253010 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis |
ORPHA:1803 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:1387 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Ventricular ... |
OMIM:616730 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, Centra... |
OMIM:602557 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Lumbar hyperlordosis, Scoliosis, Dilated cardiomyopathy |
OMIM:255310 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Braddock-Carey Syndrome 1 |
|
Ventricular septal defect, Multicystic kidney dysplasia, Aortic valve prolapse, Hyperlordosis |
OMIM:619980 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Mucopolysac... |
ORPHA:582 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion |
ORPHA:313892 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Temple Syndrome |
|
Hypertriglyceridemia, Scoliosis, Hypercholesterolemia |
OMIM:616222 |
Pseudoachondroplasia |
|
Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Abnormal form of the... |
ORPHA:750 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Thoracic kyphosis, Lumbar hyperlordosis |
OMIM:619467 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, ... |
OMIM:609616 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Butterfly vertebrae, Atrial septal defect, Scoliosis, Hyperlordosis, Ventricular septal defect, P... |
OMIM:618870 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphoscoliosis... |
ORPHA:93284 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:619451 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Micropenis, Thoracic kyphosis, ... |
ORPHA:3041 |
Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Spinal rigidity, Elevated circulating creatine kinase concentration, Scolio... |
OMIM:617114 |
Galloway-Mowat Syndrome 7 |
|
Kyphoscoliosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomeruloscleros... |
OMIM:618348 |
Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Dilated cardiomyopa... |
OMIM:310200 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, S... |
ORPHA:93352 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Platyspondyly, Hypoplastic sacrum |
OMIM:271650 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Short neck, Renovascular hypertension, Dilated cardiomyopathy, Hypercholes... |
ORPHA:401923 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Elevated circulating creatine kinase concentrat... |
ORPHA:171436 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, 3-Methylglutaric aciduria, Hyperammonemia, Elev... |
ORPHA:26791 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:435387 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foc... |
ORPHA:567548 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis |
OMIM:617821 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Right ventricular hypertrophy, Elevated circulating creatine kinase concentratio... |
ORPHA:268 |
Growth Hormone Insensitivity Syndrome |
|
Hypoplasia of penis, Hypercholesterolemia |
ORPHA:181393 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Autosomal Recessive Centronuclear Myopathy |
|
Abnormal heart valve morphology, Left ventricular hypertrophy, Hyperlordosis |
ORPHA:169186 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration |
ORPHA:353327 |
Three M Syndrome 1 |
|
Increased vertebral height, Hypospadias, Short neck, Spina bifida occulta, Hyperlordosis |
OMIM:273750 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:3218 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... |
ORPHA:93314 |
Schwartz-Jampel Syndrome, Type 1 |
|
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis, Elevated circulating ... |
OMIM:255800 |
Wieacker-Wolff Syndrome |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:314580 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Scoliosis, Hyperlordosis |
ORPHA:1323 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Three M Syndrome 3 |
|
Increased vertebral height, Short neck, Hyperlordosis |
OMIM:614205 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Scoliosis, Hypercholesterolemia |
ORPHA:254531 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Desbuquois Dysplasia 1 |
|
Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis |
OMIM:251450 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis |
OMIM:156500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Mitral valve prolapse, Atrial septal defect, Scoliosis, Hyperlordosis |
OMIM:300986 |
Fucosidosis |
|
Glycopeptiduria, Lumbar hyperlordosis, Oligosacchariduria, Anterior beaking of lumbar vertebrae, ... |
OMIM:230000 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Hypospadias, Short neck, Scoliosis, Hyperlordosis |
ORPHA:2616 |
Gm1 Gangliosidosis |
|
Kyphosis, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Ventric... |
ORPHA:354 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Smith-Magenis Syndrome |
|
Abnormal heart morphology, Hypertriglyceridemia, Scoliosis, Hypercholesterolemia |
OMIM:182290 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Short neck, Scoliosis, Thoracic kyphosis |
OMIM:304950 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Arthrogryposis, Distal, Type 5D |
|
Short neck, Scoliosis, Hyperlordosis |
OMIM:615065 |
Lateral Meningocele Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Ventricula... |
ORPHA:2789 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... |
OMIM:183900 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Aortic valve stenosis, Atlantoaxial dislocation, Platyspondyly, Short neck,... |
OMIM:607095 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... |
ORPHA:94068 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Hydronephrosis, Micropenis |
OMIM:619185 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Short neck, Hyperlordosis |
OMIM:612921 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Lumbar hyperlordosis, Platyspondyly |
OMIM:616482 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Elevated circulating creatine kinase concentration, Hyperlord... |
ORPHA:437572 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis |
OMIM:618443 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Lumbar hyperlordosis, Vertebral fusion, Biconvex vertebral bodies, Platyspondyly, Short neck, Bic... |
ORPHA:93315 |
Otospondylomegaepiphyseal Dysplasia |
|
Lumbar hyperlordosis, Abnormally ossified vertebrae, Platyspondyly, Short neck, Abnormal vertebra... |
ORPHA:1427 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Hyperlipidemia, Nephrotic range proteinuria, Short neck, Nephropathy, Platy... |
ORPHA:1830 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies |
OMIM:608728 |
Cap Myopathy |
|
Thoracic scoliosis, Mitral valve prolapse, Lumbar hyperlordosis |
ORPHA:171881 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hyperlordosis |
ORPHA:3068 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Abnormal vertebral morphology |
ORPHA:174 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Lumbar hyperlordosis, Short neck, Platyspondyly, Focal segmental glomeruloscl... |
OMIM:242900 |
Cohen Syndrome |
|
Thoracic scoliosis, Mitral valve prolapse, Lumbar hyperlordosis |
OMIM:216550 |
Microphthalmia, Lenz Type |
|
Kyphosis, Hypospadias, Hydroureter, Scoliosis, Hyperlordosis, Hydronephrosis |
ORPHA:568 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Back pain, Spina bifida occulta |
OMIM:169550 |
Pseudoachondroplasia |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspond... |
OMIM:177170 |
Arthrogryposis, Distal, Type 3 |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis, Short neck, Kyphoscoliosis |
OMIM:114300 |
Dysostosis, Stanescu Type |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:1798 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Scoliosis, Spina bifida occulta, Hyperlordosis |
ORPHA:2780 |
Achondroplasia |
|
Spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Cervical spinal canal stenosis, Thoracolum... |
ORPHA:15 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Platyspondyly, Hyperlordosis, Renal insufficiency, Hypoplasia of t... |
OMIM:226980 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria, Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:370959 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Spinal rigidity, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Hy... |
OMIM:613327 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Short neck, Hyperlordosis, Thoracolum... |
ORPHA:457395 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Lumbar hyperlordosis, Atrial septal defect, Short neck, Heparan sulfate excre... |
ORPHA:505248 |
Pfeiffer Syndrome |
|
Short neck, Hyperlordosis |
ORPHA:710 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hypocalcemia, Abnormally ossified vertebrae, Biconvex vertebr... |
ORPHA:175 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly |
OMIM:215150 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Spinal canal stenosis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Coronal cleft ve... |
OMIM:616007 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
Laron Syndrome |
|
Hypoplasia of penis, Hypercholesterolemia |
ORPHA:633 |
Acromesomelic Dysplasia 1 |
|
Beaking of vertebral bodies, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Lowe... |
OMIM:602875 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical instability, Cervical sp... |
ORPHA:508533 |
Distal Monosomy 10Q |
|
Lumbar hyperlordosis, Atrial septal defect, Spina bifida occulta, Functional abnormality of the b... |
ORPHA:96148 |
Pycnodysostosis |
|
Kyphosis, Spondylolisthesis, Spondylolysis, Scoliosis, Hyperlordosis |
ORPHA:763 |
Bethlem Myopathy |
|
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:610 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, C2-C3 subluxation, Short neck, Scoliosis, Hypoplasia of the odonto... |
OMIM:272460 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:607778 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short neck, Lumbar hyperlordosis |
ORPHA:171866 |
3Mc Syndrome |
|
Scoliosis, Spina bifida occulta, Hyperlordosis, Caudal appendage, Prominent coccyx |
ORPHA:293843 |
Dyggve-Melchior-Clausen Disease |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis... |
OMIM:223800 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Hypercholesterolemia |
ORPHA:96184 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Scoliosis, Abnormal form of the vertebral bodies, Hypertriglyceridemia... |
ORPHA:819 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Increased intervertebral spa... |
OMIM:607944 |
Satoyoshi Syndrome |
|
Hyperlordosis |
ORPHA:3130 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Split Cord Malformation |
|
Kyphoscoliosis, Butterfly vertebrae, Back pain, Abnormal thoracic spine morphology, Hypospadias, ... |
ORPHA:573278 |
Pelvis-Shoulder Dysplasia |
|
Prominent protruding coccyx, Lumbar hyperlordosis, Abnormal form of the vertebral bodies, Hydrone... |
ORPHA:2839 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Schwartz-Jampel Syndrome |
|
Nephrolithiasis, Kyphosis, Spinal rigidity, Abnormally straight spine, Abnormally ossified verteb... |
ORPHA:800 |
Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Cardiomyopathy, Micropenis |
OMIM:212720 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Hyperlordosis |
ORPHA:3253 |
Weill-Marchesani Syndrome 1 |
|
Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic stenosis, Scoliosis,... |
OMIM:277600 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Elevated urinary epinephrine, Scoliosis, Hyperlordosis |
OMIM:162300 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Glandular hypospadias, Secundum atrial septal defect |
ORPHA:1439 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Back pain, Lumbar hyperlordosis, Scoliosis, Hematuria, Renal insufficiency, P... |
OMIM:161200 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Increased level of galactitol in plasma, Hypergalactosemi... |
ORPHA:79237 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... |
ORPHA:64753 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Kyphosis, Platyspondyly, Hyperlordosis, Thoracolumbar scoliosis, Thoracolumbar kyphosis, Ovoid ve... |
OMIM:618019 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis |
OMIM:613385 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hypercholesterolemia |
OMIM:615812 |
Mucopolysaccharidosis, Type Vi |
|
Mitral stenosis, Kyphoscoliosis, Lumbar hyperlordosis, Dermatan sulfate excretion in urine, Ovoid... |
OMIM:253200 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Spondylolisthesis, Nephritis, Back pain, Lumbar hyperlordosis, Spondylolysis,... |
ORPHA:2614 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypertrophic cardiomyopathy, Hypercholesterolemia |
ORPHA:528 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Highly elevated creatine kinase, Scoliosis, Cardiomyopathy, Hyperlordosis |
ORPHA:258 |
Acromesomelic Dysplasia 4 |
|
Beaking of vertebral bodies, Thoracic scoliosis, Lumbar hyperlordosis, Platyspondyly, Thoracic pl... |
OMIM:619636 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypert... |
ORPHA:370 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Kyphosis, Bicuspid aortic valve, Spondylolisthesis, Atrial septal defect, Pulmonic stenosis, Hypo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Kyphosis, Bicuspid aortic valve, Spondylolisthesis, Atrial septal defect, Pulmonic stenosis, Hypo... |
ORPHA:363958 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect, Lumbar hyperlordosis, Short neck, Micropenis |
ORPHA:251028 |
Saethre-Chotzen Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Lumbar hyperlordosis, Back pain, Lumbar kyphosis |
OMIM:619234 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis, Hypercholesterolemia |
ORPHA:2479 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Irregular vertebral endplates, Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Ventricular hypert... |
OMIM:143095 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosi... |
OMIM:271510 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrat... |
ORPHA:365 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Kyphoscoliosis, Lumbar hyperlordosis |
OMIM:184253 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Scoliosis, Narrow vertebral interpedicu... |
OMIM:250250 |
Alexander Disease |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:58 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615356 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:3353 |
Desbuquois Dysplasia 2 |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Unilateral renal agenesis, Hyperlordosis |
ORPHA:221139 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Proteinuria, Abnormal endocardium ... |
ORPHA:904 |
Multiple Endocrine Neoplasia Type 2 |
|
Nephrolithiasis, Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Elevated urinary catecho... |
ORPHA:653 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased glomerular filtration rate, Steatorrhea, ... |
ORPHA:470 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Hyperlordosis |
ORPHA:261330 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Opitz-Kaveggia Syndrome |
|
Lumbar hyperlordosis, Hypospadias, Short neck, Sacral dimple, Abnormal heart morphology |
OMIM:305450 |
Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Cor pulmonale, Scoliosis, Hyperlordosis, Abnormal heart morphology |
ORPHA:2020 |
Frontorhiny |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Kyphoscoliosis, Atrial septal defect, Pulmonic stenosis, Scoliosis, Hyperlordosis, Ventricular se... |
ORPHA:363700 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis |
OMIM:616078 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
Camurati-Engelmann Disease |
|
Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Urinary retention, Hyper... |
ORPHA:1328 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Weill-Marchesani Syndrome 2 |
|
Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic stenosis, Scoliosis,... |
OMIM:608328 |
Hallermann-Streiff Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:234100 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Hypospadias, Scoliosis, Ventricular septal defect, Renal cyst, Patent foram... |
OMIM:616975 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia |
ORPHA:90065 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypert... |
ORPHA:264580 |
Alagille Syndrome 1 |
|
Renal tubular acidosis, Atrial septal defect, Hemivertebrae, Tetralogy of Fallot, Focal segmental... |
OMIM:118450 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Atrial septal defect |
ORPHA:522077 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Scoliosis, Hyperlordosis, Unilateral renal hypoplasia, Sacral dimple |
OMIM:619950 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:210250 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, Hypercholesterolemia |
OMIM:610644 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Aminoaciduria, Proximal renal tubular acidosis, Platyspondyly, Scoliosis, Renal Fanconi... |
OMIM:309000 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypert... |
ORPHA:79240 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:250420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis |
OMIM:301066 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Proteinuria, Hypercholesterolemia, Micropenis |
OMIM:619471 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral valve calcification, Hypertriglyceridemia, Hypercholesterolemia, Ve... |
ORPHA:363618 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Micropenis |
ORPHA:457359 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Double outlet right ventricle, Hypomagnesemia, Hypocalcemia, Hypoplastic left heart, Micropenis, ... |
OMIM:619503 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Hyperlipidemia, Tubulointerstitial fibrosis, Enlarged kidney, Hypertriglyceridem... |
ORPHA:79259 |
Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, Lumbar hyperlordosis, Atrial septal defect, Thoracic kyphoscoliosis, Mi... |
OMIM:618371 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrolithiasis, Kyphosis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Hypo... |
ORPHA:534 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypernatriuria, Hypertriglyceridemia, Hyperu... |
ORPHA:90041 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Sponastrime Dysplasia |
|
Kyphoscoliosis, Lumbar hyperlordosis, Hypospadias, Abnormality of the vertebral column, Platyspon... |
ORPHA:93357 |
Iniencephaly |
|
Absent vertebra, Hyperlordosis |
ORPHA:63259 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Lumbar hyperlordosis, Horizontal sacrum, Spina bifida occulta, Sacral dimple, Hypoplastic 5th lum... |
OMIM:211910 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Abnormal urine potassium concentration, Hypernatriuria, Hypertriglyceridemia, Hypona... |
ORPHA:275761 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Atrial septal defect, Unilateral renal agenesis, Hemiverteb... |
ORPHA:500150 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Atrioventricular canal defect, Ventricular septal d... |
OMIM:619534 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Hypophosphaturia, Hypocalciuria, Hyperlordosis |
ORPHA:73223 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Kyphosis, Lumbar hyperlordosis, Anterior wedging of T11, Platyspondyly, Hypoplasia of the odontoi... |
OMIM:300106 |
Branchiooculofacial Syndrome |
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Kyphosis, Hypospadias, Short neck, Hyperlordosis, Renal cyst |
OMIM:113620 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, Hypercholesterolem... |
ORPHA:391665 |
Steinert Myotonic Dystrophy |
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Dilated cardiomyopathy, Hypercholesterolemia |
ORPHA:273 |
Microphthalmia, Syndromic 1 |
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Kyphoscoliosis, Lumbar hyperlordosis, Bicuspid aortic valve, Hypospadias, Hydroureter, Scoliosis,... |
OMIM:309800 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Polyuria, Hypercholesterolemia |
OMIM:606721 |