Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... |
OMIM:300718 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... |
OMIM:255600 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... |
OMIM:617404 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:600175 |
Isolated Glycerol Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
ORPHA:408 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:280333 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dil... |
ORPHA:206546 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal ... |
OMIM:609308 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral... |
ORPHA:577 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Left atrial enlargement... |
OMIM:160500 |
Rigid Spine Syndrome |
|
Hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:97244 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Atrial septal defect, Hype... |
OMIM:620211 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:617054 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:62 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hyperlordosis, Nephrotic syndrome, Type I diabetes mellitus, Abnormal mitral valve m... |
ORPHA:1192 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615290 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Mildly elevated creatine kinase |
OMIM:161800 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... |
OMIM:252605 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
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 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Insu... |
OMIM:615980 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613723 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613818 |
Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae |
OMIM:222600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:618129 |
Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Abnormality of the cervical spine |
OMIM:307500 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Scoliosis, Hyperlordosis |
OMIM:620389 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Left ventricular hy... |
OMIM:613156 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:267 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:615761 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis |
ORPHA:3085 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Horseshoe kidney, Scoliosis, Hyperlordosis |
OMIM:617352 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:615156 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... |
OMIM:607155 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
Ck Syndrome |
|
Abnormal circulating cholesterol concentration, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:251383 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Cardio... |
ORPHA:86812 |
Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Renal hypoplasia, Recurrent hypoglycem... |
OMIM:616817 |
Myasthenic Syndrome, Congenital, 14 |
|
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis |
OMIM:616228 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Right ventricular dilatation, ... |
OMIM:253700 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... |
ORPHA:2522 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... |
ORPHA:99642 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... |
OMIM:264180 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Thickened aortic valve cusp, Hyperlordosis, Nephrolithiasis, Dermata... |
OMIM:619698 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati... |
OMIM:619542 |
Facioscapulohumeral Dystrophy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:269 |
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 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98855 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98863 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis |
OMIM:618363 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:261 |
Mucopolysaccharidosis, Type Iva |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of... |
OMIM:253000 |
Myopathy, Centronuclear, 1 |
|
Mildly elevated creatine kinase, Hyperlordosis |
OMIM:160150 |
Nemaline Myopathy 2 |
|
Spinal rigidity, Mildly elevated creatine kinase, Scoliosis, Hyperlordosis |
OMIM:256030 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:613157 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Right ventri... |
ORPHA:353 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hyperlordosis, Nephrocalcinosis, Thoracic kyphosis, Hypocalcemia, Scoliosis |
ORPHA:557003 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Mildly elevated creatine kinase |
ORPHA:536516 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:167320 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Thoracol... |
ORPHA:1159 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Cervical kyphosis, Short neck, Dilated cardiomyopathy, Renovascular hypert... |
ORPHA:401923 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlordosis, Elevated circula... |
ORPHA:26791 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Cardiomyopathy, Abnormality of... |
ORPHA:52430 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation |
OMIM:184250 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Scoliosis |
ORPHA:254531 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:1387 |
Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis |
OMIM:255310 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis |
OMIM:617450 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis |
OMIM:619980 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:611588 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Atrial septal defec... |
OMIM:618870 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... |
ORPHA:582 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:619451 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyphosis in infancy, Thorac... |
ORPHA:3041 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... |
ORPHA:93352 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:435387 |
Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Urinary incontinence, S... |
OMIM:617114 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... |
ORPHA:171436 |
Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Dilated cardiomyopathy, Cardio... |
OMIM:310200 |
Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal circulating creatine ... |
OMIM:620249 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Kyphoscoliosis, Minimal chan... |
OMIM:618348 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... |
OMIM:253010 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Autosomal Recessive Centronuclear Myopathy |
|
Left ventricular hypertrophy, Abnormal heart valve morphology, Hyperlordosis |
ORPHA:169186 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis |
ORPHA:353327 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Schwartz-Jampel Syndrome, Type 1 |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Elevated circulating creatin... |
OMIM:255800 |
Three M Syndrome 1 |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta |
OMIM:273750 |
Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:314580 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Abnormal circulating creatine kinase concentration, Hyperlordosis |
ORPHA:369840 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Cardiomegaly,... |
ORPHA:268 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... |
OMIM:602557 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young, Scoliosis |
OMIM:616222 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... |
OMIM:262190 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabete... |
OMIM:226980 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis |
OMIM:617821 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Increased level of galac... |
ORPHA:79237 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Lumbar hyperlordosis |
ORPHA:3198 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Three M Syndrome 3 |
|
Increased vertebral height, Hyperlordosis, Short neck |
OMIM:614205 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Hyperlordosis, Scoliosis, Mitral valve prolapse |
OMIM:300986 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperl... |
OMIM:613327 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Scoliosis, Hyperlordosis |
ORPHA:1323 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia |
ORPHA:633 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:354 |
3M Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, Abnormal heart morphology |
OMIM:182290 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Joubert Syndrome 37 |
|
Micropenis, Lumbar hyperlordosis, Hydronephrosis |
OMIM:619185 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Scoliosis |
OMIM:114300 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:208920 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis |
OMIM:618443 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly, Anterior beak... |
OMIM:230000 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Hyperlordosis, Hypoplasia of the odontoid process, Spinal canal stenosis, Coronal c... |
OMIM:616007 |
Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ... |
OMIM:607095 |
Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Short neck |
OMIM:612921 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Minimal change glomerulone... |
ORPHA:1830 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Hyperlordosis |
OMIM:600462 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... |
ORPHA:528 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse |
ORPHA:171881 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... |
ORPHA:69076 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis, Hydronephrosis |
ORPHA:568 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology |
ORPHA:174 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hyperlordosis |
ORPHA:3068 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Scoliosis |
ORPHA:96184 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... |
ORPHA:1427 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage... |
OMIM:242900 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:370959 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse |
OMIM:216550 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck |
OMIM:615222 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Mitral valve prolapse |
ORPHA:2848 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis |
ORPHA:254854 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Arthrogryposis, Distal, Type 5D |
|
Hyperlordosis, Scoliosis, Short neck |
OMIM:615065 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Abnormal heart... |
ORPHA:505248 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Short neck, Hyperlordosi... |
ORPHA:175 |
Stiff-Person Syndrome |
|
Diabetes mellitus, Lumbar hyperlordosis |
OMIM:184850 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Trichorhinophalangeal Syndrome Type 1 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:763 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platyspondyly, Neonatal death |
OMIM:616482 |
Distal Deletion 10Q |
|
Lumbar hyperlordosis, Functional abnormality of the bladder, Vesicoureteral reflux, Horseshoe kid... |
ORPHA:96148 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis |
OMIM:613385 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur... |
ORPHA:573278 |
Bethlem Myopathy |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity |
ORPHA:610 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... |
OMIM:272460 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly |
OMIM:215150 |
Chromosome 10Q26 Deletion Syndrome |
|
Lumbar hyperlordosis, Short neck, Vesicoureteral reflux, Atrial septal defect, Micropenis |
OMIM:609625 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Scoliosis... |
ORPHA:819 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
3Mc Syndrome |
|
Hyperlordosis, Prominent coccyx, Scoliosis, Spina bifida occulta, Caudal appendage |
ORPHA:293843 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy... |
ORPHA:800 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Satoyoshi Syndrome |
|
Hyperlordosis |
ORPHA:3130 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... |
ORPHA:79240 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... |
OMIM:607944 |
Alexander Disease |
|
Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
ORPHA:58 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Prominent protruding coccyx, Hydronephrosis, Abnormal form of the vertebral... |
ORPHA:2839 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Hyperlordosis |
ORPHA:3253 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Thoracic scoliosis, Lumbar hyperlordosis, Micropenis |
OMIM:212720 |
Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyo... |
ORPHA:264580 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... |
OMIM:277600 |
Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Hematuria,... |
OMIM:161200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Hyperlordosis, Kyph... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Hyperlordosis, Kyph... |
ORPHA:363958 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Proteinuria, Abnormal circulating fatty-acid concentrat... |
ORPHA:2298 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Increased LDL c... |
ORPHA:412 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Lumbar kyphosis |
OMIM:619234 |
Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Stage 5 chronic kidney disease... |
ORPHA:2614 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Lumbar hyperlordosis, Glandular hypospadias |
ORPHA:1439 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cardiomyopathy, Highly elevated creatine kinase, Scoliosis, Hyperlordosis |
ORPHA:258 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micropenis, Lumbar hyperlordosis, Ventricular septal defect, Short neck |
ORPHA:251028 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... |
OMIM:253200 |
Saethre-Chotzen Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... |
OMIM:619636 |
Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Elevated urinary epinephrine level, Scoliosis, Hyperlordosis |
OMIM:162300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Cardiomegaly, Oligosaccharidur... |
ORPHA:365 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... |
OMIM:271510 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Hypercholesterolemia, Scoliosis |
ORPHA:2479 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Lumbar hyperlordosis, Ventricular septal defect, Mitral stenosis, Tricus... |
OMIM:143095 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... |
OMIM:250250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615356 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Hyperlordosis |
ORPHA:221139 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Lumbar hyperlordosis |
OMIM:602471 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Desbuquois Dysplasia 2 |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Hyperlordosis |
ORPHA:261330 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... |
OMIM:248370 |
Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck, Abnormal heart morphology |
OMIM:305450 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:3353 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Mitral valve... |
ORPHA:363700 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis |
OMIM:616078 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Elevated urin... |
ORPHA:653 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperlordosis, Mitral valve prolapse, Abnormal heart morphology, Enuresis nocturna, Scoliosis, At... |
OMIM:615873 |
Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Abnormal heart morphology, Scoliosis |
ORPHA:2020 |
Frontorhiny |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Hallermann-Streiff Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:234100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Hyperlordosis |
OMIM:301066 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Camurati-Engelmann Disease |
|
Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Urinary retention, Scoliosis, Hyper... |
ORPHA:1328 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... |
OMIM:608328 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Renal cyst, Scoliosis, Vesicoureter... |
OMIM:616975 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Ventricular septal defect, Multiple small medullary renal cysts, Hemiverteb... |
OMIM:118450 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Sacral dimple, Short neck, Hyperlordosis, Unilateral renal hypoplasia, Scoliosis |
OMIM:619950 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Micropenis, Neonatal hypoglycemia |
ORPHA:457359 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Atrial septal defect, Lumbar hyperlordosis, Scoliosis |
ORPHA:522077 |
Gaisböck Syndrome |
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Diabetes mellitus, Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Incr... |
ORPHA:90041 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Lumbar hyperlordosis, Scoliosis |
OMIM:250420 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Sacral dimple, Ventricular septal defect, Mitral atresia, Thoracolumbar scoliosis, Hyperlordosis,... |
OMIM:619503 |
Sitosterolemia 1 |
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Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Neuhauser Syndrome |
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Hypercholesterolemia |
OMIM:249310 |
Bardet-Biedl Syndrome 20 |
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Atrial septal defect, Hypercholesterolemia, Micropenis, Proteinuria |
OMIM:619471 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypercalciuria, Renal insufficiency, Proteinuria, Hypoammonemia, Kyphosis, Proximal... |
ORPHA:534 |
Acrocapitofemoral Dysplasia |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Hypercholesterolemia, ... |
ORPHA:363618 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Ureteral duplication, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect,... |
OMIM:600001 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... |
ORPHA:275761 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Iniencephaly |
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Absent vertebra, Hyperlordosis |
ORPHA:63259 |
Turnpenny-Fry Syndrome |
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Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, A... |
OMIM:618371 |
Sponastrime Dysplasia |
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Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspo... |
ORPHA:93357 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Kyphoscoliosis, Unilateral renal agenesis, Hemivertebrae, Horseshoe kidney,... |
ORPHA:500150 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intoleran... |
OMIM:606721 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Hypophosphaturia, Hypocalciuria, Hyperlordosis |
ORPHA:73223 |
Immunodeficiency 47 |
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Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Branchiooculofacial Syndrome |
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Hypospadias, Hyperlordosis, Short neck, Kyphosis, Renal cyst |
OMIM:113620 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Steinert Myotonic Dystrophy |
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Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Hyperinsulinemia, Hypercholesterol... |
ORPHA:273 |
Microphthalmia, Syndromic 1 |
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Lumbar hyperlordosis, Hypospadias, Bicuspid aortic valve, Kyphoscoliosis, Hydroureter, Renal hypo... |
OMIM:309800 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Myocardial steato... |
ORPHA:391665 |