| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia |
ORPHA:2274 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Cryptorchidism, Abnormal mitral valve morphology, Gait disturbance, Hyp... |
ORPHA:1192 |
| Isolated Glycerol Kinase Deficiency |
|
Hyperlordosis, Adrenocortical hypoplasia, Scoliosis, Cryptorchidism |
ORPHA:408 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:300718 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cry... |
ORPHA:3085 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Gait disturbance, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:617404 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Inability to walk, Lumbar hyperlordosis, Thoracic scoliosis, Left ventric... |
ORPHA:206546 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... |
OMIM:271630 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Waddling gait, Unsteady gait |
ORPHA:280333 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Ataxia, Scoliosis, Kyphosis, Waddling ... |
OMIM:616756 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Difficulty walking, Scoliosis, Hyperlordosis, Waddling gait |
OMIM:611067 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Striatonigral Degeneration, Childhood-Onset |
|
Loss of ambulation, Lumbar hyperlordosis, Steppage gait, Unsteady gait |
OMIM:617054 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... |
OMIM:600561 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Kyphosis, Ataxia |
ORPHA:796 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Inability to walk, Gait disturbance, Scoliosis, Kyphosis |
OMIM:611225 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Tip-toe gait, Steppage gait, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait |
OMIM:615290 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Hyperlordosis, Waddling gait |
ORPHA:363454 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... |
OMIM:609223 |
| Rigid Spine Syndrome |
|
Waddling gait, Scoliosis, Hyperlordosis, Spinal rigidity |
ORPHA:97244 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Spastic gait, Lumbar hyperlordosis |
OMIM:619966 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Inability to walk, Cryptorchidism, Left ventricular hypertrophy, Hyperlordosis, Micropenis, Scoli... |
OMIM:613156 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait disturbance, Kyphosis |
ORPHA:1875 |
| Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Tip-toe gait, Lumbar hyperlordosis, Left atrial enlargement, Gait disturb... |
OMIM:160500 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
| Masa Syndrome |
|
Shuffling gait, Kyphosis, Hyperlordosis |
OMIM:303350 |
| Mucolipidosis Type Iii |
|
Hyperlordosis, Abnormal heart valve morphology, Abnormal form of the vertebral bodies, Abnormal a... |
ORPHA:577 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Ascites, Azoospermia, Glucose intolerance, Splenomegaly, Cardiomegaly, Hypogonado... |
OMIM:235200 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Waddling gait, Tip-toe gait, Hyperlordosis, Thoracic scoliosis |
ORPHA:62 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Gait disturbance, Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Difficulty walking, Lumbar hyperlordosis, Cardiomyopathy, Spinal rigidity |
OMIM:609308 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Tip-toe gait, Difficulty walking, Hyperlordosis, Scoliosis, Waddling gait |
OMIM:620389 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Difficulty walking, Gait disturbance, Hyperlordosis |
ORPHA:352470 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... |
OMIM:602390 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Recurrent hypoglycemia, Increased vertebral height, Gait ataxia, C... |
OMIM:616817 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Waddling gait, Gait disturbance, Kyphoscoliosis |
OMIM:610687 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Tip-toe gait, Lumbar hyperlordosis, Abnormal macrophage morphology, Scoliosis, ... |
ORPHA:353 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal morphology of female internal genitalia, Vertebral segmentation defect, Short neck, Hype... |
ORPHA:1797 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Hepatic steatosis, Hyperlordosis, Hepatomegaly, Truncal ataxia, Waddling gait |
ORPHA:369840 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Dilated cardiomyopathy, Hyperlordosis, Scoliosis, Waddling gait |
OMIM:161800 |
| King-Denborough Syndrome |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Ventricular septa... |
OMIM:619542 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Glucose intolerance, Abnormality of the cervical spine, Hypergo... |
OMIM:307500 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hyperlordosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism |
ORPHA:1387 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Hyperlordosis |
OMIM:614198 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Gait disturbance, Falls, Hyperlordosis, Patent foramen ovale |
OMIM:615156 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hyperlo... |
ORPHA:3130 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Difficulty walking, Lumbar hyperlordosis, Unsteady gait |
OMIM:613818 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cardiomyopathy, Difficulty walking, Lumbar hyperlordosis, Left ventricular hypertrophy, Waddling ... |
ORPHA:86812 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Splenomegaly, Hepatomegaly, Ataxia, Anterior beaking of lumbar vertebrae, Scoliosi... |
OMIM:230650 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervica... |
ORPHA:2522 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Tip-toe gait, Difficulty walking, Hyperlordosis, Vertebral fusion, Scolio... |
OMIM:607155 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple |
OMIM:615761 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Se... |
OMIM:613313 |
| Kennedy Disease |
|
Type II diabetes mellitus, Decreased fertility, Gait disturbance, Testicular atrophy, Erectile dy... |
ORPHA:481 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve... |
ORPHA:1354 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hypogonadism, Decreased testicular size, External genital hypoplasia, Lumbar hyperlordosis, Dysme... |
ORPHA:3041 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of the prostate, Cervical spinal canal stenosis, Cryptorchidism, Scheuermann-like vert... |
OMIM:301900 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... |
OMIM:607685 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Difficulty walking, Tip-toe gait, Hyperlordosis, Spinal rigidity |
ORPHA:267 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
ORPHA:99642 |
| Hurler-Scheie Syndrome |
|
Abnormal vertebral morphology, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abn... |
ORPHA:93476 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Hyperlordosis, Spinal rigidity |
ORPHA:157973 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Hypoplasia of the odontoid process, Abnormal heart valve morphology, Hepatomegaly,... |
OMIM:253000 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Hypospadias, Kyphosis, Abnormal testis morphology |
ORPHA:1548 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Gait disturbance, Hyperlordosis, Back pain |
OMIM:618129 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyphoscoliosis, O... |
OMIM:617396 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Difficulty walking, Scoliosis, Kyphosis |
OMIM:617087 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Loss of ambulation, Hyperlordosis, Scoliosis, Right ventricular hyp... |
OMIM:253700 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Decreased serum testosterone concentration, Hyperglycemia, Decreased libido, Port... |
ORPHA:465508 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Broad-based gait, Tip-toe gait, Difficulty walking, Lumbar hyperlordosis, Gait imbalance, Steppag... |
ORPHA:435387 |
| Nemaline Myopathy 2 |
|
Inability to walk, Steppage gait, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Spin... |
OMIM:256030 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Abnormal form of the vertebral bodies, Cardiomyopathy, Abnormal heart morphology, ... |
ORPHA:354 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:608540 |
| O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Kyphosis, Cryptorchidism |
OMIM:618512 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly, Abnormal form of the vertebral bodies |
ORPHA:1802 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tip-toe gait, Loss of ambulation, Steppage gait, Gait disturbance, Hyperlordosis, Scoliosis |
OMIM:620285 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis, Waddling gait |
OMIM:617760 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Tip-toe gait, Difficulty walking, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:606612 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... |
OMIM:271500 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Scoliosis, Kyphosis, Ataxia |
ORPHA:101075 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Inability to walk, Mitral valve prolapse, Kyphoscoliosis, Cardiomegaly, St... |
ORPHA:324410 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... |
OMIM:271530 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis, Waddling gait |
OMIM:255200 |
| Diastrophic Dysplasia |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis |
OMIM:222600 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral... |
OMIM:602557 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Difficulty walking, Kyphosc... |
OMIM:300280 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Difficulty walking, Inability to walk, Cryptorchidism, Short neck, Scoliosis, Kyphosis |
OMIM:611890 |
| Hypochondroplasia |
|
Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies |
ORPHA:429 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Waddling gait |
ORPHA:156728 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis, Waddling gait |
OMIM:616228 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Scoliosis, Splenomegaly, Reduced sperm motility |
OMIM:602271 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Broad-based gait, Hyperlordosis |
OMIM:162370 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Lumbar hyperlordosis, Cryptorchidism, Hepatomegaly, Micropenis |
OMIM:619185 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Hepatosplenomegaly, S... |
ORPHA:93352 |
| Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Kyphosis, Cryptorchidism |
OMIM:618393 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Hepatitis, Lumbar hyperlordosis, Increased vertebral height, Pancytopen... |
OMIM:613385 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of the cervical spine, Ataxia... |
ORPHA:48431 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Stiff Person Spectrum Disorder |
|
Falls, Difficulty walking, Lumbar hyperlordosis, Hypothyroidism, Diabetes mellitus |
ORPHA:3198 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Broad-based gait, Hyperlordosis, Ventricular septal defect |
OMIM:617450 |
| Congenital Myopathy 8 |
|
Cardiomegaly, Scoliosis |
OMIM:618654 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Scoliosis, Kyphosis, Ataxia |
ORPHA:101078 |
| Atelosteogenesis, Type Ii |
|
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec... |
OMIM:256050 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Tip-toe gait, Gait disturbance, Hyperlordosis, Waddling gait, S... |
ORPHA:98855 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Lumbar hyperlordosis, Diabetes mellitus, Hepatic steatosis |
OMIM:615980 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Loss of ambulation, Lumbar hyperlordosis, Gait disturbance, Back pain |
OMIM:167320 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... |
ORPHA:2585 |
| Congenital Toxoplasmosis |
|
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice |
ORPHA:858 |
| Sialidosis Type 2 |
|
Ascites, Splenomegaly, Ataxia, Hepatomegaly, Kyphosis |
ORPHA:87876 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Hypertrophic cardiomyopathy, Short neck, Gait disturbance, Hyperlordosis,... |
ORPHA:98863 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Kyphosis, Aplasia/hypoplasia of the uterus, Abs... |
ORPHA:2232 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Tip-toe gait, Hypertrophic cardiomyopathy, Gait disturbance, Hy... |
ORPHA:261 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... |
ORPHA:417 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Tip-toe gait, Hypertrophic cardiomyopathy, Gait disturbance, Hy... |
ORPHA:98853 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... |
ORPHA:3109 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Cryptorchidism, Hepatic steatosis, Hepatomegaly, Scoliosis... |
OMIM:615381 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Hyperlordosis, Ovoid vertebral bodies |
ORPHA:63446 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Waddling gait |
OMIM:165800 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Thoracomelic Dysplasia |
|
Short neck, Gait disturbance, Hyperlordosis |
ORPHA:1803 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Cardiomegaly, Lethargy, Hepatomegaly, Macrovesi... |
OMIM:600649 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepa... |
OMIM:612526 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tip-toe gait, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:536516 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Kyphosis |
ORPHA:85288 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Loss of ambulation, Hyperlordosis, Scoliosi... |
OMIM:310200 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deformities, Lumb... |
OMIM:264180 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Delayed puberty, Scoliosis, Kyphosis |
ORPHA:2598 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Cardiomyopathy, Hepatic steatosis, Hyperlordosis, Waddling gait |
ORPHA:52430 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Irregular vertebral endplates |
OMIM:618363 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Autosomal Recessive Centronuclear Myopathy |
|
Abnormal heart valve morphology, Left ventricular hypertrophy, Hyperlordosis, Waddling gait |
ORPHA:169186 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypert... |
OMIM:252920 |
| Ck Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:251383 |
| Three M Syndrome 1 |
|
Decreased testicular size, Increased vertebral height, Short neck, Hyperlordosis, Spina bifida oc... |
OMIM:273750 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Ascites, Splenomegaly, Dysmetria, Cardiomegaly, Hepatomegaly, Vacuolated lymphocy... |
OMIM:256550 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Platyspondyly, Cervical kyphosis, Decreased testicular size, Lumbar hyperlordosis, Kyphoscoliosis... |
OMIM:255800 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Gait disturban... |
ORPHA:582 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia |
ORPHA:276183 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Hyperlordosis, Thrombocytopenia, Ventricular septal defect |
OMIM:619980 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Vertebral wedging, Hyperconvex vertebral body endplates, Beaking of vertebral bodi... |
ORPHA:1159 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Hypopituitarism, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies... |
OMIM:600462 |
| Cdkl5-Deficiency Disorder |
|
Difficulty walking, Gait disturbance, Scoliosis, Kyphosis |
ORPHA:505652 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Decreased carnitine level in... |
OMIM:212140 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... |
OMIM:184100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis |
OMIM:618234 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Short neck, Scoliosis, Cryptorchidism |
ORPHA:178148 |
| Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, ... |
OMIM:253010 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis |
OMIM:255310 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Cryptorchidism, Ventricular septal defect, Short neck, Hyp... |
ORPHA:2789 |
| Mucopolysaccharidosis, Type X |
|
Platyspondyly, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypertrophy, ... |
OMIM:619698 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Hyperlordosis, Hepatomegal... |
OMIM:613327 |
| Alpha-Mannosidosis |
|
Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Scoliosis, Kyphosis |
ORPHA:61 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Wolman Disease |
|
Adrenal calcification, Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Inability to walk, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Hepatomegaly, Unsteady gait, S... |
OMIM:618443 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Scoliosis, Kyphosis |
ORPHA:352490 |
| Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorc... |
OMIM:242900 |
| Fucosidosis |
|
Anterior beaking of thoracic vertebrae, Spastic gait, Cervical platyspondyly, Lumbar hyperlordosi... |
OMIM:230000 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Limb ataxia, Gait ataxia, Splenomegaly, Hepatomegaly |
OMIM:616719 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S... |
ORPHA:848 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Male ... |
ORPHA:2075 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegal... |
ORPHA:79083 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Short neck, Thoracolumbar scoliosis, Scoliosis |
OMIM:114300 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Loss of ambulation, Ataxia, Premature ovarian insufficiency, Unsteady gait, Scoliosis, Kyphosis |
OMIM:618124 |
| Pseudoachondroplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... |
ORPHA:750 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia |
OMIM:620007 |
| Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Butterfly vertebrae, Patent foramen ovale, Ventricular septal defect, Hyperlordosis, Atrial septa... |
OMIM:618870 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:617352 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Typical Nemaline Myopathy |
|
Short neck, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Kyphosis, Spinal rigidity |
ORPHA:171436 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis |
OMIM:612126 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Mitral valve prolapse, Gait disturbance, Atrial septal defect, Hyperlordosis, Ataxia, Scoliosis |
OMIM:300986 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum, Waddling gait |
OMIM:271650 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Tip-toe gait, Inability to walk, Cardiomegaly, Hyperlordosis, Right ventricular hypertrophy, Spin... |
ORPHA:268 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... |
ORPHA:93314 |
| Estrogen Resistance |
|
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Glucose intolerance, Polycystic ovar... |
OMIM:615363 |
| Camurati-Engelmann Disease |
|
Abnormality of the vertebral column, Hypogonadism, Hypertrophic cardiomyopathy, Leukopenia, Splen... |
ORPHA:1328 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defec... |
OMIM:619123 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hypoglycemia, Abnormal heart morphology, Inability to walk, Hepatic periportal ne... |
ORPHA:26791 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Platyspondyly, Type I diabetes mellitus, Hypoplasia of the odontoid process, Insulin-resistant di... |
OMIM:226980 |
| Wolfram Syndrome 1 |
|
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Ata... |
OMIM:222300 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... |
OMIM:615234 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Waddling gait |
OMIM:618392 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:606003 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlordosis, Scoliosis |
OMIM:184250 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Biliary tract abnormality, Short neck, Subvalvular aortic stenosis, Me... |
ORPHA:3191 |
| Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Lumbar hyperlordosis, Leukopenia, Mitral v... |
OMIM:216550 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Scoliosis, Cryptorchidism, Kyphoscoliosis |
OMIM:618484 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegal... |
OMIM:230500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... |
OMIM:603552 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Gait disturbance, Scoliosis, Kyphosis, Ataxia |
ORPHA:85317 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia... |
ORPHA:79312 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias |
ORPHA:1046 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Glandular hypospadias, Breast hypoplasia, Lumbar hyperlordosis, Cr... |
ORPHA:1439 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, Kyphosis |
OMIM:615433 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:252605 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis |
ORPHA:313892 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Difficulty walking, Lumbar hyperlordosis, Scoliosis, Waddling gait |
ORPHA:353327 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
| Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Limb ataxia, Gait ataxia, Dysmetria, Scoliosis, Kyphosis |
OMIM:610743 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Broad-based gait, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Dilated cardiomyopathy, Kyphosis, Hypergonadotropic hypogonadism, Neuropathic sp... |
OMIM:615084 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
OMIM:313400 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Gait disturbance, Scoliosis, Kyphosis |
ORPHA:2429 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... |
OMIM:618280 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:619451 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... |
OMIM:617796 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Abnormal form of the vertebral bodies, Abnormal morphology of female internal genitali... |
ORPHA:2311 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... |
OMIM:618117 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Scoliosis, Cryptorchidism, Vertebral segmentation defect |
ORPHA:2617 |
| Myotonia Permanens |
|
Gait disturbance, Hyperlordosis |
ORPHA:99735 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Kyphosis |
OMIM:618237 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Scoliosis, Kyphosis, Ataxia |
ORPHA:99014 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Mcdonough Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:2471 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Cardiomegaly, Hypoglycemia |
OMIM:618838 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis, Inability to walk |
OMIM:128100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Gait ataxia, Cryptorchidism, Delayed puberty, Micropenis... |
OMIM:300354 |
| 3M Syndrome |
|
Hypospadias, Increased vertebral height, Decreased fertility, Short neck, Hyperlordosis, Scoliosi... |
ORPHA:2616 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:619064 |
| Cap Myopathy |
|
Lumbar hyperlordosis, Tip-toe gait, Mitral valve prolapse, Thoracic scoliosis |
ORPHA:171881 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Stiff-Person Syndrome |
|
Anemia, Lumbar hyperlordosis, Diabetes mellitus |
OMIM:184850 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of penis, Hyperlordosis |
ORPHA:3068 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Platyspondyly, Lumbar hyperlordosis, Irregular vertebral endplates, Scoliosis, Waddling gait |
OMIM:156500 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait |
OMIM:251450 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Platyspondyly, Hypoplasia of the odontoid process, Hump-shaped mound of bone in central and poste... |
ORPHA:93284 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorrhea, P... |
ORPHA:2348 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop... |
OMIM:619151 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Unsteady gait, Scoliosis, Kyphosis, Ataxia |
OMIM:300861 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
| Pycnodysostosis |
|
Spondylolysis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Spondyl... |
ORPHA:763 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content |
OMIM:261750 |
| Becker Nevus Syndrome |
|
Supernumerary nipple, Hypoplastic labia minora, Abnormal scrotum morphology, Spina bifida occulta... |
ORPHA:64755 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Scoliosis, Irregular vertebral ... |
OMIM:609616 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:2831 |
| Sialidosis Type 1 |
|
Abnormal form of the vertebral bodies, Splenomegaly, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:812 |
| Ruvalcaba Syndrome |
|
Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism |
OMIM:180870 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Wieacker-Wolff Syndrome |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:314580 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... |
ORPHA:615 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Dilated cardiomyopathy, Kyphosis, Hypergonadotropic hypogonadism, Neuropathic sp... |
ORPHA:352447 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrh... |
OMIM:615300 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619797 |
| Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Splenomegaly, Ventricular septal defect, Hepatomegaly, Atrial septal de... |
ORPHA:290 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... |
ORPHA:3097 |
| Cantu Syndrome |
|
Platyspondyly, Congenital hypertrophy of left ventricle, Cuboid-shaped vertebral bodies, Cardiome... |
OMIM:239850 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Difficulty walking, Inability to walk, Hepatic steatosis, Hyperlordosis, Ataxia, Hepatomegaly, Tr... |
OMIM:615356 |
| Mogs-Cdg |
|
External genital hypoplasia, Hepatosplenomegaly, Thoracic scoliosis, Cardiomegaly, Left ventricul... |
ORPHA:79330 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Limb dysmetria, Upper limb dysmetria, Spastic gait, Infertility, Scoliosis, Kyphosis |
OMIM:614409 |
| Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Broad-based gait, Lumbar hyperlordosis, Cryptorchidism, Short neck, Atrial septal ... |
OMIM:609625 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Difficulty walking, Cryptorchidism, Gait disturbance, Ataxia, Hepatomegaly, Sc... |
ORPHA:90322 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Oculoskeletodental Syndrome |
|
Scoliosis, Hyperlordosis, Thoracic kyphosis |
ORPHA:557003 |
| Arthrogryposis, Distal, Type 5D |
|
Hypoplastic labia majora, Scoliosis, Hyperlordosis, Short neck |
OMIM:615065 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Difficulty walking, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Wa... |
ORPHA:464282 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatospleno... |
ORPHA:505248 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Cryptorchidism, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:568 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Cardiomyopathy |
ORPHA:85447 |
| Immunodeficiency 48 |
|
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... |
OMIM:269840 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatic steatosis, Cardiomegaly, Lethargy, Ataxia, Hepatomegaly |
ORPHA:42 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Splenomegaly, Macrocytic anemia, Ataxia, Neonatal hypoglycemia |
OMIM:619046 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly, Hepatomegaly, Scoliosis |
ORPHA:1133 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Congenital Myopathy 10B, Mild Variant |
|
Difficulty walking, Scoliosis, Hyperlordosis |
OMIM:620249 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Adenoma sebaceum, Scoliosis, Hyperlordosis, Abnormal morphology of female internal genitalia |
ORPHA:3353 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
| Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain |
ORPHA:56425 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidi... |
ORPHA:1655 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... |
ORPHA:785 |
| Alexander Disease |
|
Precocious puberty, Short neck, Hypothyroidism, Gait disturbance, Hyperlordosis, Ataxia, Scoliosi... |
ORPHA:58 |
| 3Mc Syndrome |
|
Caudal appendage, Bilateral cryptorchidism, Supernumerary nipple, Prominent coccyx, Hyperlordosis... |
ORPHA:293843 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Hypochondroplasia |
|
Lumbar hyperlordosis, Widened interpedicular distance |
OMIM:146000 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Scoliosis, Kyphosis |
OMIM:300602 |
| Joubert Syndrome 33 |
|
Splenomegaly, Ataxia |
OMIM:617767 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... |
OMIM:183900 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Scoliosis |
ORPHA:3137 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Atrial... |
ORPHA:398069 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:613101 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
| Myopathy, Myofibrillar, 7 |
|
Spinal rigidity, Difficulty walking, Lumbar hyperlordosis, Scoliosis, Thoracic kyphosis |
OMIM:617114 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... |
OMIM:201475 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S... |
ORPHA:94068 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac septum morphology,... |
ORPHA:3320 |
| Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Scoliosis, Kyphosis, Unsteady gait |
OMIM:617435 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland, Ataxi... |
ORPHA:2047 |
| Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly, Thoracolumbar kyphosis, Sea-blue histiocytosis, Splenomegaly, Hypoplastic vertebra... |
OMIM:230600 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Decre... |
ORPHA:508533 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Platyspondyly, Lymphopenia, Lumbar hyperlordosis, Increased intervertebral space, Kyphoscoliosis,... |
OMIM:607944 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Waddling gait |
OMIM:608728 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenosis, Decrea... |
OMIM:616007 |
| Kaposiform Lymphangiomatosis |
|
Abnormal form of the vertebral bodies, Pancreatic cysts, Hepatosplenomegaly, Abnormal thoracic sp... |
ORPHA:464329 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Schaaf-Yang Syndrome |
|
Hypogonadism, Inability to walk, Cryptorchidism, Micropenis, Scoliosis, Kyphosis |
OMIM:615547 |
| Three M Syndrome 3 |
|
Short neck, Increased vertebral height, Hyperlordosis |
OMIM:614205 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly |
OMIM:231000 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... |
ORPHA:2905 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites, Lumbar hyperlordosis, Mitral valve prolapse, Pericarditis |
ORPHA:2848 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Limb ataxia, Cardiomegaly, Truncal ataxia |
OMIM:619051 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Platyspondyly, Difficulty walking, Thoracic platyspondyly, Patent foramen ovale, Kyphoscoliosis, ... |
ORPHA:457395 |
| Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypertrophy, Scoliosis |
OMIM:252900 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Irregular vertebral endplates... |
ORPHA:174 |
| Schimke Immuno-Osseous Dysplasia |
|
Platyspondyly, Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia... |
ORPHA:1830 |
| Fucosidosis |
|
Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Hypothyroidism, Anterior beaking of l... |
ORPHA:349 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Splenomegaly, Short neck, Kyphosis, Ovoid vertebral bodies |
ORPHA:583 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Splenomegaly, Short neck, Atrial septal defect, Hepatomegaly, Pericardial effusion, Kyph... |
OMIM:608776 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... |
OMIM:209950 |
| Wilson Disease |
|
Hepatitis, Abnormality of the menstrual cycle, Difficulty walking, Acute hepatitis, Splenomegaly,... |
ORPHA:905 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... |
OMIM:602450 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Microcytic anemia, Hypothyroidism, Ataxia,... |
ORPHA:324737 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
| Marinesco-Sjogren Syndrome |
|
Limb ataxia, Gait ataxia, Ataxia, Scoliosis, Kyphosis, Hypergonadotropic hypogonadism |
OMIM:248800 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Overriding a... |
OMIM:617022 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Thoracolumbar scoliosis, Kyphosis |
OMIM:313420 |
| Martsolf Syndrome 1 |
|
Cardiomyopathy, Lumbar hyperlordosis, Cryptorchidism, Thoracic scoliosis, Hypogonadotropic hypogo... |
OMIM:212720 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Sho... |
OMIM:616897 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Cholestasis, Glucose intolerance, Splenomegaly, Ventricular septal defect, Hepa... |
OMIM:615630 |
| Pure Mitochondrial Myopathy |
|
Loss of ambulation, Lumbar hyperlordosis, Scoliosis, Waddling gait |
ORPHA:254854 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Decreased testicular size, External genital hypoplasia, Lumbar hyperlordosis, C... |
ORPHA:251028 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3218 |
| Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Hepatom... |
OMIM:252930 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hyperlordosi... |
OMIM:301066 |
| Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Cryptorchidism, Short neck, Hypoplasia of penis, Kyphosis |
ORPHA:3409 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Ataxia, Hepatomegaly |
ORPHA:391 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Scoliosis, Hyperlordosis, Vertebral segmentation defect |
ORPHA:1323 |
| Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... |
OMIM:177170 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Alg1-Cdg |
|
Abnormal heart morphology, Scoliosis, Kyphosis, Cardiomyopathy |
ORPHA:79327 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
| Aarskog-Scott Syndrome |
|
Cervical spine hypermobility, Hypoplasia of the odontoid process, Elevated circulating luteinizin... |
OMIM:305400 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Platyspondyly, Biconvex vertebral bodies, Vertebral wedging, Abnor... |
ORPHA:93315 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Microphallus, Decreased response to growth hormone stimulation test, Abnormal heart ... |
ORPHA:94065 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Gait disturbance, Kyphosis |
OMIM:614898 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb ataxia, Gait ataxia, Increased hepatic glycogen content, Cardiomegaly, Gait ... |
OMIM:619259 |
| Cartilage-Hair Hypoplasia |
|
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Cardiomyopathy, Abnormally ossi... |
ORPHA:175 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
