Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Spastic paraplegia, Upper limb spastici... |
OMIM:611225 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... |
OMIM:616471 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... |
OMIM:620386 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Severe muscular hypotonia, Spinal rigidity, Kyphosis, Flexion contracture, Hypotonia, Myopathy, G... |
OMIM:618323 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Generalized hypotonia, Dystonia, Ne... |
OMIM:618237 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyper... |
OMIM:617404 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Hypotonia, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Hypertr... |
OMIM:618234 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Axial hypotonia, Kyphosis, Appendicular hypotonia, Facial myokymia, Failure to thrive |
OMIM:620007 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Elevated circu... |
OMIM:615290 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp... |
ORPHA:75840 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Lumbar hyperlordosis, Dystonia, Kyphosis, Hypotonia, Obesity, Generalized ... |
OMIM:616756 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Increased serum serotonin |
ORPHA:85288 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Hypotonia, Obesity, Scoliosis, Generalized hypotonia, Micropenis, Delayed puberty, Sche... |
OMIM:301900 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Elevat... |
OMIM:606612 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness |
OMIM:617087 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... |
ORPHA:98863 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98853 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Alg1-Cdg |
|
Renal insufficiency, Kyphosis, Hypotonia, Abnormal heart morphology, Nephrotic syndrome, Cardiomy... |
ORPHA:79327 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Generalized... |
OMIM:208085 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypotonia, Hypertonia, Left ventricular noncompac... |
OMIM:617228 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Kyphosis, Abnormal heart morphology, Congenital contracture, Hypertoni... |
ORPHA:352490 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Kyphosis, Congenital muscular dystrophy, Hypotonia |
ORPHA:1875 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Hypotonia, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty |
ORPHA:2598 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... |
OMIM:254090 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial... |
OMIM:300280 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly |
ORPHA:796 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... |
OMIM:608776 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Dystonia, Short neck, Kyphosis, Facial diplegia, Scoliosis, Generalized ... |
OMIM:611890 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Hypotonia, Hypertonia, Left ventricular noncompaction, Hyperalaninemia... |
OMIM:615917 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:619040 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
ORPHA:352447 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Hypotonia, Scoliosis, Obesity |
ORPHA:276630 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase con... |
OMIM:248800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Wide ant... |
OMIM:619064 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Elevated circulatin... |
OMIM:615084 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis,... |
ORPHA:3191 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... |
OMIM:607155 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Axial hypotonia, Abnormality of the musculature of the lower limbs, Urinar... |
ORPHA:464282 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult... |
OMIM:618393 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Spas... |
ORPHA:349 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Wide anterior fontanel, Hypotonia, Increased circulating very long-chain fatty acid... |
OMIM:614859 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Hypospadias, Hypotonia, Scoliosis |
ORPHA:1548 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Typical Nemaline Myopathy |
|
Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity,... |
ORPHA:171436 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Kyphosis, Obesity, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:619255 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Small for gestational age, Decreased body weight |
OMIM:618392 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn... |
ORPHA:3032 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Hepatomegaly, Kyphosis, Splenomegaly, Flexion contracture, Generalized h... |
ORPHA:87876 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Hypotonia, Obesity, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Lower limb spasticity, Urinary incontinence, Kyphosis, Spastic paraplegia, Upper limb spasticity,... |
OMIM:614409 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Generalized hypotonia, Prolonged neonatal jaundice |
OMIM:618512 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3... |
ORPHA:26791 |
Masa Syndrome |
|
Kyphosis, Spastic paraplegia, Lower limb spasticity, Hyperlordosis |
OMIM:303350 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Generalized hypotonia, Scoliosis, Slender build |
OMIM:300831 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Wide an... |
OMIM:113000 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar... |
OMIM:230650 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... |
OMIM:252605 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Spasticity, Truncal obesity, Scoliosis |
ORPHA:2429 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... |
OMIM:128100 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Neonatal hypotonia, Spinal rigidity, Centr... |
OMIM:620351 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Generalized hypotonia, Arthrogryposis... |
OMIM:615834 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Small for gestational age, Congenital diaphragmatic hernia, Decreased response to gr... |
ORPHA:94065 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture, Generalized hypotonia |
OMIM:618658 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Abnormal muscle tone, Scoliosis |
ORPHA:505652 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Severe muscular hypotonia, Wide anterior fontanel, Renal cyst, Mul... |
OMIM:614883 |
Kleefstra Syndrome 2 |
|
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis |
OMIM:617768 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia,... |
ORPHA:254346 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... |
ORPHA:178148 |
3C Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Sh... |
ORPHA:7 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hypospadias, Kyphosis, Hypotonia, Macroglossia, Abdominal obesity, ... |
OMIM:300354 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Large for gestational age, Kyphosis, Wide anterior fontanel, Enlarged kidney |
OMIM:618272 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Hypospadias, Dextrocardia, Short neck, Kyphosis, Wide anterior fontanel, R... |
OMIM:248700 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypotonia, General... |
OMIM:130060 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Flexion contracture, Obesity, Hypogonadism, Scoliosis, Ca... |
OMIM:615547 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia |
OMIM:614898 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmat... |
OMIM:609029 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypotonia, Macroglossia, Type II diabetes melli... |
ORPHA:61 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Short neck, Wide anterior fon... |
OMIM:606003 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Dilated cardio... |
OMIM:230500 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia |
OMIM:616455 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis... |
ORPHA:48431 |
Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hypotonia, Hyperlordosis... |
ORPHA:354 |
Rhizomelic Syndrome, Urbach Type |
|
Short neck, Kyphosis, Wide anterior fontanel, Abnormal form of the vertebral bodies, Pulmonic ste... |
ORPHA:3098 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Kyphosis, Hypertonia, Scoliosis, Dystonia, Spasticity |
OMIM:617435 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Hypotonia, Hydronephrosis, Scoliosis |
OMIM:619797 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Hypotonia, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Ventricular septal defect, Secundum atrial septal defect, K... |
OMIM:619909 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Wide anterior fontanel, Hypotonia, Renal tubular dysfunction, Hype... |
OMIM:614886 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal in... |
ORPHA:2047 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Hypotonia, Scoliosis |
OMIM:300676 |
Wieacker-Wolff Syndrome |
|
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Congenital foot contractu... |
OMIM:314580 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Facial palsy, Hyperec... |
ORPHA:456312 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabe... |
ORPHA:3085 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Distal 16P11.2 Microdeletion Syndrome |
|
Neonatal hypotonia, Proteinuria, Kyphosis, Chronic kidney disease, Obesity, Hyperuricemia, Vesico... |
ORPHA:261222 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... |
OMIM:253000 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Kyphosis, E... |
OMIM:615381 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... |
OMIM:613179 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Hypergonadotropic hypogon... |
OMIM:212065 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Hypotonia, Left ventricular nonc... |
OMIM:619167 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Ventricular septal defect, Kyphosis... |
OMIM:603387 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Kyphosis, Abnormality of the ureter, Ob... |
ORPHA:3409 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, Congenital diaphra... |
ORPHA:2311 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Abnormality of the ureter, Hypotonia, Multiple renal cysts, ... |
ORPHA:3378 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Lumbosacral men... |
OMIM:608022 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Macr... |
ORPHA:583 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Axial hypotonia, Facial hypotonia, Kyphosis, Spasticity, Scoliosis, Micropenis, Abnormality of mu... |
ORPHA:364028 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:615761 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Kyphosis, Increased ur... |
ORPHA:812 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Abnormal me... |
ORPHA:2075 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Atypical Rett Syndrome |
|
Kyphosis, Hypotonia, Abnormal muscle tone, Scoliosis, Dystonia, Neonatal hypotonia, Spasticity |
ORPHA:3095 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Dystonia, Spasticity, Infantile muscular hypotonia, Limb hypertonia |
ORPHA:500180 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor w... |
OMIM:169400 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Flexion contracture, Hypotonia, Horseshoe kidney, Abnormal h... |
ORPHA:314588 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Facial palsy, Urinary incontinence, Short neck, Kyphosis, Achilles tendon contra... |
OMIM:301041 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hypotonia, Platyspondyly, Atrial septal defect |
ORPHA:2655 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Scoliosis |
ORPHA:99014 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Severe muscular hypotonia, K... |
OMIM:618291 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Hypotonia, Elevated circulating calcitonin... |
OMIM:162300 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Hypertonia, Scoliosis, Cong... |
OMIM:108145 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Micropenis, Hypotonia |
OMIM:615433 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Nephrolithiasis, Obesity, Increased circula... |
OMIM:219090 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Kyphosis, Hypotonia, Scoliosis, Atrial septal defect, Cervical C2/C3 v... |
OMIM:617190 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Spasticity, Scoliosis |
OMIM:610743 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Thoracolumbar scolios... |
OMIM:610199 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Kyphosis, Platyspondyly, Hypotonia |
ORPHA:93274 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Dias... |
OMIM:253220 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Pericardial effusion, Kyphosis, Hypersplenism, Splenomegaly, Hematuria... |
ORPHA:77259 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Bicuspid aortic valve, Hypospadias, Kyphosis, Hypotonia, ... |
ORPHA:96169 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Sh... |
ORPHA:99776 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Kyphosis, Hypotonia, Scoliosis, Dystonia, Spasticity |
ORPHA:702 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Scoliosis, Beaking of vertebral bodies |
ORPHA:137834 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Spinal canal stenosis, Obesity, Infantile... |
ORPHA:15 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Lower limb spasticity, Urinary incontinence, Kyphosis, Arm dystonia, Sco... |
ORPHA:88644 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis |
ORPHA:1545 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Opisthotonus, Hypertonia, Generalized hypotonia, Infantile axial ... |
ORPHA:508533 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Small for gest... |
OMIM:610443 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Unilateral renal agenesis, Secundum atrial septal defect, Kyphosis, Hypo... |
OMIM:619951 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s... |
ORPHA:1724 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Ventricular septal defect, Kyphosis, Hypotonia, Scoliosis, Atrial septal defect, Spa... |
OMIM:616449 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Wide anterior fontanel, Kyphosis, Hypotonia, Platyspondyly,... |
ORPHA:1860 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... |
OMIM:300942 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Neonatal hypotonia, Axial hypotonia, Ventricular septal defect, Left ventricular noncompaction ca... |
OMIM:300967 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hydroureter, Ve... |
ORPHA:2461 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, H... |
ORPHA:628 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... |
ORPHA:2522 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... |
ORPHA:392 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Dystonia, Kyphosis, Jaundice, Splenomegaly, Hypotonia, Myopathy, Cholecy... |
OMIM:615512 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Neonatal hypotonia, Premature pubarche, Precocious puberty, Kyphosis, Flexion contracture, Increa... |
ORPHA:398069 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... |
ORPHA:1332 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration,... |
OMIM:219080 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Kyphosis, A... |
ORPHA:324737 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis |
ORPHA:261190 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Spast... |
OMIM:301040 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Kyphosis, Hypotonia, Abnormal heart morphology, Scoliosis |
ORPHA:404440 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Lower limb spasticity, Axial hypotonia, Kyphosis, Flexion contracture, Scoliosis, M... |
ORPHA:90322 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:253010 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Scoliosis, Arthrogryposis multiplex c... |
OMIM:617143 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis |
OMIM:609008 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Wide anterior fontanel, Splenomegaly, Hypothyroidism, Micropenis, Hepa... |
OMIM:613673 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Kyphosis, Hypotonia, Scoliosis, Atrial septal defect |
OMIM:617061 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Neurogenic bladder, Bicuspid aortic valve, Ventricular s... |
OMIM:130720 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... |
ORPHA:582 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Flexion contracture, Hypotonia, Hypogonadism, Scoliosis, Neonatal hypotonia... |
ORPHA:500055 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Hypotonia, Scoliosis, Short neck |
ORPHA:238750 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Cam... |
OMIM:617602 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Hypotonia, Obesity, Scoliosis, Sp... |
OMIM:618443 |
Hurler Syndrome |
|
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process,... |
OMIM:607014 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the v... |
ORPHA:2789 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Obesity, Platyspondyly, Scoliosis, Generalized hy... |
OMIM:251450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Spastic paraplegia, Distal amyotrophy, Scoliosis |
OMIM:609541 |
Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... |
OMIM:203500 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion in urine,... |
OMIM:607015 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Dystonia, Spasticity |
OMIM:312750 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Heparan sulfate excretion in urine, Ky... |
OMIM:309900 |
Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Clark-Baraitser syndrome |
|
Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Wide anterior fontanel, Elevated 8(9)-cholestenol, Elevated 8-dehydrocho... |
ORPHA:401973 |
Mgat2-Cdg |
|
Ventricular septal defect, Abnormality of the endocrine system, Kyphosis, Hypotonia, Abnormal hea... |
ORPHA:79329 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Multicystic kidney dysplasia, Camptodactyly of finger, Facial palsy, Kypho... |
ORPHA:261349 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Kyphosis, Hypotonia, Male urethral meatus stenosis, Scoli... |
ORPHA:464738 |
Stickler Syndrome, Type I |
|
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... |
OMIM:108300 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Kyphosis, Hydroxyprolinemia, Hypercalciuria, Hypotonia, ... |
OMIM:239000 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased res... |
OMIM:176270 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:2115 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral ... |
ORPHA:464311 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Kyphosis, Abdominal situs inversus, Pulmonic stenosis, Campt... |
OMIM:619123 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Hypertonia, ... |
ORPHA:192 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Bladder diverticulum, Generalized hypotonia, Scoliosis |
OMIM:617821 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Delayed puberty |
OMIM:180870 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Kyphosis, Hypotonia, Scoliosis, Dystonia, Failure to thrive |
OMIM:617988 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Trisomy 20P |
|
Hypospadias, Camptodactyly of finger, Short neck, Kyphosis, Abnormality of the ureter, Hypotonia,... |
ORPHA:261318 |
Cohen Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy, Kyphosis, Hypotonia, Obesity, Mitral val... |
ORPHA:193 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Kyphosis, Generalized dystonia, Scoliosis |
ORPHA:79107 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Urinary incontinence, Kyphosis, Complete atrioventricular canal defect, Scoliosis,... |
ORPHA:476126 |
Micro Syndrome |
|
Hypoplasia of penis, Kyphosis, Hypotonia, Scoliosis, Delayed puberty, Spasticity, Hydronephrosis |
ORPHA:2510 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... |
OMIM:249420 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... |
ORPHA:93360 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Hypogonadi... |
ORPHA:85293 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis |
ORPHA:2771 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Kyphosis, Hypotonia, Mitral valve prolapse, Pulmonic stenosis, Hype... |
OMIM:619745 |
Mucolipidosis Type Ii |
|
Hip contracture, Axial hypotonia, Abnormal mitral valve morphology, Diastasis recti, Kyphosis, Sp... |
ORPHA:576 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Hypotonia, Scoliosis |
ORPHA:261144 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... |
ORPHA:2916 |
Ruvalcaba Syndrome |
|
Kyphosis, Hematuria, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Hyperton... |
ORPHA:800 |
Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis, Abnorma... |
ORPHA:1969 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Hypoplasia of penis, Short neck |
ORPHA:3082 |
3M Syndrome |
|
Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, S... |
ORPHA:2616 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypo... |
ORPHA:2215 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Multiple joint contractures, Ventricular septal defect, Hypospadias, Unilatera... |
ORPHA:464306 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Wide anterior fontanel, Scoliosis |
OMIM:259420 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Scoliosis |
OMIM:211530 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal heart valve morphology, Hypospadias, Congenital diaphragmatic hernia, Kyp... |
ORPHA:280 |
Poland Syndrome |
|
Diabetes mellitus, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyphos... |
ORPHA:2911 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomeg... |
ORPHA:1328 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Generalized hypotonia, Scoliosis, Flexion contracture of finger, Camptodactyly |
ORPHA:88628 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Generalized hypotonia, Scoliosis |
OMIM:618493 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Wide anterior fontanel, Platyspondyly, Neon... |
OMIM:616482 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Kyphosis, Hypotonia, Vertebral se... |
ORPHA:251014 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rigidity, Kyphosis, Hypotonia, Congenital hypothyroidism, Contractures of the large joints, Hyper... |
OMIM:617527 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Hypoton... |
ORPHA:58 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Hypotonia, Scoliosis, Failure to thrive |
ORPHA:420794 |
Mend Syndrome |
|
Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia, Aortic valve stenosis, Crossed f... |
OMIM:300960 |
Zttk Syndrome |
|
Absent gallbladder, Neonatal hypotonia, Ventricular septal defect, Polyuria, Unilateral renal age... |
OMIM:617140 |
Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:763 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Failure to thrive, Camptodactyly of finger, Elevated circ... |
OMIM:309000 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Hypotonia, Scoliosis, Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
Plaa-Associated Neurodevelopmental Disorder |
|
Rigidity, Kyphosis, Hypotonia, Contractures of the large joints, Progressive spastic quadriplegia... |
ORPHA:521426 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Hypertriglyceridemia, Diabetes mellitus, Kyphoscoliosis, Peric... |
ORPHA:536532 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Hypocalcemia, S... |
OMIM:618476 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Axial hypotonia, Ventricular septal defect, Kyphoscoliosis, Hypoplasia of the... |
OMIM:602535 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Hypospadias, Short neck, Hypoplastic 5t... |
ORPHA:955 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kyphosis, Scoliosi... |
OMIM:616894 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... |
ORPHA:1606 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Hydronephr... |
ORPHA:568 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Dilated cardiomyopathy, Ventricular septal defect, Scoliosis |
ORPHA:261250 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconca... |
OMIM:259770 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Kyphosis, Scoliosis, Decreased body weight, Neonatal hypotonia, Micropenis |
OMIM:619005 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Unilateral renal a... |
ORPHA:268261 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Hypospadias, Thoracolumbar scoliosis, Congenital diaphragmatic herni... |
OMIM:265000 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Th... |
ORPHA:2232 |
Postencephalitic Parkinsonism |
|
Camptocormia, Oculogyric crisis, Rigidity, Kyphosis, Cogwheel rigidity |
ORPHA:97349 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Spondyloenchondrodysplasia |
|
Proteinuria, Decreased response to growth hormone stimulation test, Kyphosis, Chronic kidney dise... |
ORPHA:1855 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:1507 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Hypertonia, Micrope... |
OMIM:619475 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Hypotonia, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, Hypotonia |
OMIM:616294 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Weaver Syndrome |
|
Diastasis recti, Kyphosis, Hypotonia, Hypertonia, Scoliosis, Camptodactyly, Generalized hypotonia... |
OMIM:277590 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Cardiac fibroma, Hypotonia, Ab... |
ORPHA:77301 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Urinary incontinence, Spastic tetraparesis, Kyphosis... |
ORPHA:171629 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging, Hypotonia, Mitral valve prolapse |
OMIM:616914 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Hypertonia, Hepatomegaly, ... |
ORPHA:191 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Kyphosis, Generalized hypotonia, Scoliosis, Neonatal hypotonia, Spasticity |
OMIM:613454 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... |
OMIM:143095 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis, Mitral valve prolapse |
OMIM:177850 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter |
OMIM:615108 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Dystonia, Short neck, Kyphosis, Prominent protruding coccyx, Spastic diplegia, Pro... |
OMIM:300966 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, ... |
ORPHA:90324 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Elbow flexion cont... |
OMIM:619194 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Generalized hypoto... |
OMIM:618050 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Hypo... |
ORPHA:457359 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter |
OMIM:615109 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... |
ORPHA:99413 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... |
ORPHA:881 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... |
ORPHA:99226 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Ventricular septal defe... |
OMIM:194190 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis |
OMIM:619557 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Hypotonia |
OMIM:619244 |
Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hypo... |
ORPHA:79318 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Hypotonia, Spasticity, Macroglossia, Platyspondyl... |
OMIM:208400 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Decreased body weight |
OMIM:182210 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Scoliosis, Hydronephrosis |
ORPHA:140 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Otosclerosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypospadias, Kyphoscoliosis, Ectopic kidney, Kyphosis, Camptodactyly, Test... |
ORPHA:3063 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter |
OMIM:158350 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
Wrinkly Skin Syndrome |
|
Scapular winging, Failure to thrive, Hypoplasia of the musculature, Kyphosis, Wide anterior fonta... |
OMIM:278250 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Scoliosis, Delayed puberty, Micropenis |
OMIM:619718 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Wide anterior fontanel, Platyspondyly, Scoliosis, Vertebral compression fracture |
OMIM:610915 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:963 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Cachexia, Kyphosis, Hypotonia, Mitral valve ... |
ORPHA:558 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Facial palsy, Hypercalcem... |
ORPHA:797 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebra... |
ORPHA:828 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Large for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Scoliosis |
OMIM:617011 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Facial palsy, Kyphosis, Epispadias, Hypotonia, Hypogonadi... |
ORPHA:2658 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphos... |
ORPHA:201 |
Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Hepatomegaly, Proteinuria, Kyphosis, Splenomegaly, Thymic h... |
OMIM:216400 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Small for gestational age, Cervical kyphosis, Kyphosis, Flexion ... |
ORPHA:666 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Hydroureter, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hern... |
OMIM:135900 |
Alström Syndrome |
|
Thoracic scoliosis, Urinary incontinence, Decreased response to growth hormone stimulation test, ... |
ORPHA:64 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Abnormal ... |
ORPHA:821 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Kyphosis, Splenomegaly... |
OMIM:133540 |
Cdags Syndrome |
|
Rectourethral fistula, Kyphosis, Hypospadias |
OMIM:603116 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... |
ORPHA:3042 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Wide anterior fontanel, Hypospadias |
ORPHA:85199 |
Occipital Horn Syndrome |
|
Kyphosis, Jaundice, Hepatitis, Cholestasis, Hypotonia, Bladder diverticulum, Platyspondyly, Scoli... |
ORPHA:198 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Dystonia, Knee flexion contracture |
OMIM:619708 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Hypospadias |
OMIM:609944 |
17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Precocious puberty, Kyphosis, Renovascular hypertension, Abnormal heart morphol... |
ORPHA:97685 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Hypotonia, Urinary incontinence, Scoliosis |
OMIM:619482 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Viss Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Patent foramen ovale, Hypothyroi... |
OMIM:619472 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Kyphosis, Scoliosis, Hepatomegaly |
ORPHA:394 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Abnormality of the vert... |
ORPHA:2273 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Hypergonadotropic hypogonadism, Elev... |
OMIM:259050 |
Proteus Syndrome |
|
Decreased muscle mass, Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Kyphosis, Splenomega... |
ORPHA:744 |
Coffin-Lowry Syndrome |
|
Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Decreased body weight |
OMIM:303600 |
Ramon Syndrome |
|
Kyphosis, Scoliosis, Decreased body weight |
OMIM:266270 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Hypospadias, Small for gesta... |
OMIM:216340 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Kyphosis, Precocious puberty, Pheochromocytoma, Scoliosis, D... |
ORPHA:636 |
Branchiooculofacial Syndrome |
|
Hypospadias, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Renal ... |
OMIM:113620 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |