| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:300718 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Tremor, Abnormal mitral valve morphology, Anemia, Hyperlordosis, Progressive neur... |
ORPHA:1192 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Lumbar hyperlordosis, Dystonia, Scoliosis, Kyphosis, Retinal dystrophy |
OMIM:616756 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Abnormal aortic valve mor... |
ORPHA:577 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... |
OMIM:600561 |
| Congenital Myopathy 16 |
|
Tongue tremor, Postural tremor, Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
| Isolated Glycerol Kinase Deficiency |
|
Hyperlordosis, Scoliosis, Cryptorchidism |
ORPHA:408 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Obesity, Cryptorchidism, Abnormality of retinal pigmentation, Polycyst... |
ORPHA:3085 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Dystonia, Lumbar hyperlordosis |
OMIM:619966 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... |
OMIM:609223 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Depression, Hyperlordosis |
ORPHA:352470 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Striatonigral Degeneration, Childhood-Onset |
|
Dystonia, Craniofacial dystonia, Lumbar hyperlordosis |
OMIM:617054 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... |
OMIM:271630 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:617404 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Lumbar hyperlordosis, Thoracic scoliosis, Left ventricular hypertrophy, T... |
ORPHA:206546 |
| Ck Syndrome |
|
Slender build, Irritability, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:300831 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Cryptorchidism, Left ventricular hypertrophy, Hyperlordosis, Micropenis, ... |
OMIM:613156 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Depression, Hyperlordosis, Patent foramen ovale |
OMIM:615156 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy, Slender build, Hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:161800 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Cognitiv... |
ORPHA:858 |
| Rigid Spine Syndrome |
|
Scoliosis, Hyperlordosis, Spinal rigidity |
ORPHA:97244 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal morphology of female internal genitalia, Vertebral segmentation defect, Short neck, Hype... |
ORPHA:1797 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Generalized dystonia, Tremor, Hyperlordosis, Torticollis, Writer's cra... |
OMIM:128100 |
| Gm1 Gangliosidosis |
|
Cherry red spot of the macula, Hepatosplenomegaly, Abnormal scrotum morphology, Ventricular septa... |
ORPHA:354 |
| Immunodeficiency 48 |
|
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:269840 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
| King-Denborough Syndrome |
|
Failure to thrive, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Ventricular se... |
OMIM:619542 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Slender build, Scoliosis, Hyperlordosis |
OMIM:620389 |
| Myopathy, Distal, 1 |
|
Left atrial enlargement, Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis |
OMIM:160500 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... |
OMIM:617514 |
| Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Failure to thrive, Abnormal natural killer cell mo... |
OMIM:615617 |
| Cohen Syndrome |
|
Optic atrophy, Leukopenia, Lumbar hyperlordosis, Bull's eye maculopathy, Mitral valve prolapse, T... |
OMIM:216550 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Ck Syndrome |
|
Slender build, Lumbar hyperlordosis, Kyphoscoliosis, Irritability |
ORPHA:251383 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Secundum atrial septal defect, Decreased proportion... |
OMIM:611926 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Cardiomyopathy, Spinal rigidity |
OMIM:609308 |
| Diastrophic Dysplasia |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosi... |
OMIM:222600 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Hyperlordosis, Spinal rigidity |
ORPHA:157973 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Increased vertebral height, Cryptorchidism, Kyphoscoliosis, Hyperl... |
OMIM:616817 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Frontotemporal dementia, Dementia, Dystonia, Back pain |
OMIM:167320 |
| Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, ... |
OMIM:619151 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Failure to thrive, Tongue-like lumbar vertebra... |
OMIM:264180 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple |
OMIM:615761 |
| Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyphoscoliosis, O... |
OMIM:617396 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Fucosidosis |
|
Mental deterioration, Anterior beaking of thoracic vertebrae, Failure to thrive, Cherry red spot ... |
OMIM:230000 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervica... |
ORPHA:2522 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Kyphoscoliosis, Hyperlordosis, Truncal obesity, Coronal cleft vertebrae, Scoliosis, Irre... |
OMIM:618363 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Scoliosis, Right ventricular hypertrophy, Abnormal macrophage morphology |
ORPHA:353 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hand tremor, Hypogonadism, Decreased testicular size, External genital hypoplasia, Lumbar hyperlo... |
ORPHA:3041 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Dilated cardiomyopathy, Scoliosis, Failure to thrive |
OMIM:255310 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Hyperlordosis, Thoracic scoliosis |
ORPHA:62 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, Attention deficit hyperactivity disorde... |
ORPHA:313892 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hyperlordosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism |
ORPHA:1387 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Hyperlordosis, Scoliosis, Failure to thrive |
OMIM:617352 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Hypochondroplasia |
|
Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies |
ORPHA:429 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Hypochromic anemia, Failure to thrive, Microcytic anemia, Sideroblastic a... |
OMIM:600462 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion... |
OMIM:614702 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Vitreous floaters, Cardiomyopathy |
ORPHA:85447 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Attention deficit hyperactivity disorder, Hyperlordosis, Ventricular septa... |
OMIM:617450 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hyperlordosis, Hypo... |
ORPHA:3130 |
| Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Decreased proportion of CD8-positive T cells, Decreased proportion ... |
OMIM:617241 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cardiomyopathy, Lumbar hyperlordosis, Left ventricular hypertrophy, Scoliosis, Spinal rigidity |
ORPHA:86812 |
| Atelosteogenesis, Type Ii |
|
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec... |
OMIM:256050 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Platyspondyly, Thickened aortic valve cusp, Vitreous floaters, Left ventri... |
OMIM:619698 |
| Nemaline Myopathy 2 |
|
Slender build, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:256030 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Abnormal heart valve morphology, Sho... |
OMIM:253000 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Depression, Thoracic kyphosis |
OMIM:619467 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Hyperlordosis, Ovoid vertebral bodies |
ORPHA:63446 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Butterfly vertebrae, Patent foramen ovale, Ventricular septal defect, Attention deficit hyperacti... |
OMIM:618870 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
ORPHA:99642 |
| Stiff-Person Syndrome |
|
Depression, Lumbar hyperlordosis, Opisthotonus, Exaggerated startle response, Anemia |
OMIM:184850 |
| Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:536516 |
| Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, L... |
OMIM:242900 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... |
ORPHA:169154 |
| Congenital Myopathy 8 |
|
Cardiomegaly, Scoliosis |
OMIM:618654 |
| Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect |
OMIM:619980 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Hyperlordosis, Scoliosis, Right ventricular hypertrophy, Right ventricular dilatation |
OMIM:253700 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Retinal detachment, Scoliosis, ... |
OMIM:609616 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive |
OMIM:614096 |
| Three M Syndrome 1 |
|
Decreased testicular size, Increased vertebral height, Short neck, Hyperlordosis, Spina bifida oc... |
OMIM:273750 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Mitral valve prolapse, Attention deficit hyperactivity disorder, Hyperlordosis... |
OMIM:300986 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hyperlordosis, Spinal rigidity |
ORPHA:267 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Hyperlordosis,... |
ORPHA:582 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
| Three M Syndrome 3 |
|
Increased vertebral height, Decreased body weight, Short neck, Hyperlordosis, Small for gestation... |
OMIM:614205 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Hyperlordosis, Back pain |
OMIM:618129 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Irritability, Lumbar scoliosis, C... |
OMIM:617796 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:607155 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis |
OMIM:606612 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Frontotemporal dementia, Hyperlordosis, Cardiomyopathy |
ORPHA:52430 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Hyperlordosis |
ORPHA:369840 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis, Memory impairment, Emotional lability |
ORPHA:435387 |
| Facioscapulohumeral Dystrophy |
|
Abnormal retinal vascular morphology, Hyperlordosis |
ORPHA:269 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... |
OMIM:615513 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Obesity, Lumbar hyperlordosis, Cryptorchidism, Hepatomegaly, Micropenis |
OMIM:619185 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Hypertrophic cardiomyopathy, Obesity, Short neck, Hyperlordosis, Scoliosis, Back pain, ... |
ORPHA:98863 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity |
ORPHA:98855 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Hepatosplenomegaly, S... |
ORPHA:93352 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Obesity, Hyperlordosis, Scoliosis,... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Obesity, Hyperlordosis, Scoliosis,... |
ORPHA:98853 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... |
OMIM:184100 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis |
OMIM:616228 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Kyphoscoliosis, Cardiomegal... |
OMIM:300280 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... |
OMIM:256550 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Dementia, Scoliosis, Hyperlordosis |
OMIM:620285 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Retinal detachment, Abnormal form of the vertebral bodies |
ORPHA:3218 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral... |
OMIM:602557 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Ovoid thoracolumbar vertebrae, Progressive neurologic d... |
OMIM:252920 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Platyspondyly, Hypoplasia of the odontoid process, Hump-shaped mound of bone in central and poste... |
ORPHA:93284 |
| Cartilage-Hair Hypoplasia |
|
Biconvex vertebral bodies, Failure to thrive, Cardiomyopathy, Abnormal form of the vertebral bodi... |
ORPHA:175 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp... |
OMIM:601457 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Decre... |
ORPHA:508533 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity, Emotional lability, Thoracolumbar scoliosis, Hyperlordosis, Hepatomegaly, Scoliosis, Kyp... |
OMIM:618443 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlordosis, Scoliosis |
OMIM:184250 |
| Camurati-Engelmann Disease |
|
Optic atrophy, Abnormality of the vertebral column, Hypogonadism, Slender build, Leukopenia, Hype... |
ORPHA:1328 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... |
ORPHA:3109 |
| Schimke Immuno-Osseous Dysplasia |
|
Platyspondyly, Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopenia, Lumbar h... |
ORPHA:1830 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... |
ORPHA:860 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Vertebral wedging, Hyperconvex vertebral body endplates, Beaking of vertebral bodi... |
ORPHA:1159 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Cantu Syndrome |
|
Platyspondyly, Congenital hypertrophy of left ventricle, Large for gestational age, Cuboid-shaped... |
OMIM:239850 |
| Autosomal Recessive Centronuclear Myopathy |
|
Abnormal heart valve morphology, Left ventricular hypertrophy, Hyperlordosis |
ORPHA:169186 |
| Wieacker-Wolff Syndrome |
|
Short neck, Hyperlordosis, Dystonia, Scoliosis, Kyphosis |
OMIM:314580 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
| Pseudoachondroplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... |
ORPHA:750 |
| Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis |
ORPHA:1803 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Cardiomyopathy, Hypertrophic cardiomyopathy, Confusion, Endocardial fibroelast... |
OMIM:212140 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:619451 |
| Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Cryptorchidism, Ventricular septal defect, Short neck, Hyp... |
ORPHA:2789 |
| Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Vitreoretinopathy, L... |
OMIM:183900 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:252605 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Exaggerated startle response, Optic disc pallor, Scoliosis, Kyphosis |
OMIM:609541 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
OMIM:313400 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Hepatome... |
OMIM:253010 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Platyspondyly, Cervical kyphosis, Decreased testicular size, Lumbar hyperlordosis, Kyphoscoliosis... |
OMIM:255800 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Glandular hypospadias, Lumbar hyperlordosis, Cryptorchidism, Small... |
ORPHA:1439 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cardiomyopathy, Lumbar hyperlordosis, Retinal detachment, Optic nerve hypoplasia |
ORPHA:370959 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Pancytopenia, Hypersplenism, Increased vertebral height, Splenomega... |
OMIM:613385 |
| Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Lumbar hyperlordosis, Short attention span, Cryptorchidism, Short neck, Atrial sep... |
OMIM:609625 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:251450 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis, Torticollis |
OMIM:181405 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Rod-cone dystroph... |
ORPHA:391428 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
| 46,Xy Sex Reversal 11 |
|
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... |
OMIM:618108 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Leukop... |
ORPHA:505248 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Platyspondyly, Lymphopenia, Lumbar hyperlordosis, Increased intervertebral space, T lymphocytopen... |
OMIM:607944 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Short neck, Thoracolumbar scoliosis, Scoliosis |
OMIM:114300 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Retinal detachment, Cervical instabili... |
ORPHA:94068 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Chorioretinal coloboma, Optic disc coloboma, Cryptorchidism, Hyperlordosis, Scoliosi... |
ORPHA:568 |
| Alexander Disease |
|
Precocious puberty, Depression, Failure to thrive, Emotional lability, Tremor, Short neck, Hyperl... |
ORPHA:58 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Narrow ... |
OMIM:250250 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Thoracic scoliosis, Cardiomegaly,... |
ORPHA:79330 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:2831 |
| Three M Syndrome 2 |
|
Hyperlordosis, Short neck, Small for gestational age, Lumbar hyperlordosis |
OMIM:612921 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Scoliosis, Hyperlordosis, Cardiomyopathy |
OMIM:310200 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... |
ORPHA:221139 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
| Mulibrey Nanism |
|
Pigmentary retinopathy, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
| Oculoskeletodental Syndrome |
|
Scoliosis, Hyperlordosis, Thoracic kyphosis |
ORPHA:557003 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg... |
OMIM:235200 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Abdominal obesity |
OMIM:615980 |
| 3M Syndrome |
|
Hypospadias, Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:2616 |
| Typical Nemaline Myopathy |
|
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
ORPHA:171436 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Short neck, ... |
OMIM:616897 |
| Arthrogryposis, Distal, Type 5D |
|
Hypoplastic labia majora, Scoliosis, Hyperlordosis, Short neck |
OMIM:615065 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Splenomegaly, Hyperlordosis, Hepatomegaly, Scoliosis, Spinal rigidity |
OMIM:613327 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Optic atrophy, Dilated cardiomyopathy, Transposition of the great arteries, Atri... |
OMIM:253800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology, Thrombocytopenia,... |
ORPHA:3320 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
| Hypochondroplasia |
|
Lumbar hyperlordosis, Widened interpedicular distance |
OMIM:146000 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... |
ORPHA:93314 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Decreased proportion of CD8-p... |
OMIM:615607 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Ventricular septal defe... |
OMIM:620609 |
| Smith-Mccort Dysplasia 2 |
|
Platyspondyly, Hypoplasia of the odontoid process, Decreased body weight, Short neck, Hyperlordosis |
OMIM:615222 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Mental deterioration, Cardiomegaly, Ventricular hypertrophy |
OMIM:619051 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of penis, Hyperlordosis |
ORPHA:3068 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Kyphoscoliosis, Cardiomegaly, Abnormal atrioventric... |
ORPHA:324410 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Platyspondyly, Obesity, Lumbar hyperlordosis, Irregular vertebral ... |
ORPHA:174 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... |
OMIM:619510 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Cherry red spot of the macula, Hepatosplenomegaly, Cardiom... |
OMIM:268800 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Cognitive impairment, Exaggerated ... |
ORPHA:309246 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Failure to thrive, Exaggerated startle response, Irritability |
OMIM:616881 |
| Pycnodysostosis |
|
Spondylolysis, Hepatosplenomegaly, Spondylolisthesis, Hyperlordosis, Overweight, Scoliosis, Kyphosis |
ORPHA:763 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... |
OMIM:618280 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Retinopathy... |
OMIM:603903 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Scoliosis, Exaggerated startle response |
ORPHA:320406 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Scoliosis |
ORPHA:3137 |
| Refsum Disease, Classic |
|
Cardiomegaly, Rod-cone dystrophy, Cardiomyopathy, Retinal degeneration |
OMIM:266500 |
| Achondroplasia |
|
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Obesity, Lumbar hyperlordosis, Spinal can... |
ORPHA:15 |
| Cap Myopathy |
|
Lumbar hyperlordosis, Mitral valve prolapse, Thoracic scoliosis |
ORPHA:171881 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Lumbar hyperlordosis, Back pain, Optic disc coloboma |
OMIM:169550 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Scoliosis, Hyperlordosis, Vertebral segmentation defect |
ORPHA:1323 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Platyspondyly, Lumbar hyperlordosis, Scoliosis, Irregular vertebral endplates |
OMIM:156500 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... |
ORPHA:555874 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Dysplastic sacrum, Cardiomegaly, Short neck, Severe platyspondyly, Small for gestational age |
OMIM:613320 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Optic atrophy, Kyphosis, Cardiomyopathy, Cervical spinal canal stenosis, Abno... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Optic atrophy, Kyphosis, Cardiomyopathy, Cervical spinal canal stenosis, Abno... |
ORPHA:363958 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Hyperlordosis, Right ventricular hypertrophy, Spinal rigidity |
ORPHA:268 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:353327 |
| Congenital Myopathy 10B, Mild Variant |
|
Scoliosis, Hyperlordosis |
OMIM:620249 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Ir... |
OMIM:618278 |
| Schwartz-Jampel Syndrome |
|
Blepharospasm, Platyspondyly, Decreased testicular size, Decreased body weight, Irritability, Abn... |
ORPHA:800 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Hepatomegaly |
ORPHA:99931 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Platyspondyly, Biconvex vertebral bodies, Vertebral wedging, Lumba... |
ORPHA:93315 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomyopathy, Confusion, Tremor, Cardiomegaly, Dementia, Amyloid deposition in the vitreous hum... |
OMIM:105210 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Short neck, Coronal cleft ver... |
ORPHA:1427 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Hyperlordosis, Abnormal heart morphology |
ORPHA:26791 |
| Saethre-Chotzen Syndrome |
|
Blepharospasm, Optic atrophy, Abnormal form of the vertebral bodies, Cryptorchidism, Hyperlordosi... |
ORPHA:794 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h... |
ORPHA:911 |
| Anauxetic Dysplasia 1 |
|
Aortic valve stenosis, Atlantoaxial dislocation, Platyspondyly, Lumbar hyperlordosis, Short neck,... |
OMIM:607095 |
| Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Brain abscess, Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma |
OMIM:616482 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Hepatosplenomegaly, Mitral valve prolapse, Exaggerated startle res... |
ORPHA:309155 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Mitral valve prolapse, Pericarditis |
ORPHA:2848 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Short attention span, Irritability, Exaggerated startle response, Optic nerve ... |
OMIM:617864 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Pelvis-Shoulder Dysplasia |
|
Abnormal form of the vertebral bodies, Retinal coloboma, Lumbar hyperlordosis, Prominent protrudi... |
ORPHA:2839 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, External genital hypoplasia, Lumbar hyperlordosis, Emotional lability,... |
ORPHA:251028 |
| Fucosidosis |
|
Kyphosis, Failure to thrive, Cardiomegaly, Hepatomegaly, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Perrault Syndrome 4 |
|
Obesity, Hypoplasia of the ovary, Cognitive impairment, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:615300 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis, Abnormal morphology of female internal genitalia |
ORPHA:3353 |
| Hallermann-Streiff Syndrome |
|
Chorioretinal coloboma, Optic disc coloboma, Cryptorchidism, Hyperlordosis, Scoliosis, Small for ... |
OMIM:234100 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Mental deterioration, Abnormal proportion of CD4-po... |
ORPHA:217260 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Martsolf Syndrome 1 |
|
Cardiomyopathy, Lumbar hyperlordosis, Cryptorchidism, Thoracic scoliosis, Hypogonadotropic hypogo... |
OMIM:212720 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Myopathy, Myofibrillar, 7 |
|
Thoracic kyphosis, Scoliosis, Lumbar hyperlordosis, Spinal rigidity |
OMIM:617114 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... |
OMIM:608800 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Cardiomegaly, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Tay-Sachs Disease |
|
Dementia, Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus |
OMIM:601076 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cardiomyopathy, Decreased body weight, Hyperlordosis, Cognitive impairment, Scoliosis |
ORPHA:258 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Platyspondyly, Thoracic platyspondyly, Patent foramen ovale, Kyphoscoliosis, Short neck, Beaking ... |
ORPHA:457395 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity, Lumbar hyperlordosis, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperlor... |
OMIM:616078 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Dysostosis, Stanescu Type |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:1798 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| 3Mc Syndrome |
|
Caudal appendage, Bilateral cryptorchidism, Prominent coccyx, Hyperlordosis, Spina bifida occulta... |
ORPHA:293843 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Short neck, Hypoplasia of the uterus |
ORPHA:247768 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
| Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... |
OMIM:177170 |
| Distal Deletion 10Q |
|
Failure to thrive, Lumbar hyperlordosis, Attention deficit hyperactivity disorder, Atrial septal ... |
ORPHA:96148 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Tremor, Hyperlordosis, Hepatomegaly, Dystonia, Athetosis, Scoliosis |
OMIM:615356 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Short neck, ... |
OMIM:617022 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly, Anemia, Opis... |
OMIM:608013 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Obesity, Hepatosplenomegaly, Short attention span, Hyperlordosis, Hepatomegaly |
OMIM:301066 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Tremor, Patent foramen ovale, Atrial septal defect, Exaggerated startle response |
OMIM:620327 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Hyposegmentation of neutrophil nuc... |
OMIM:618019 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Lumbar hyperlordosis, St... |
ORPHA:2232 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Cardiomegaly |
ORPHA:42 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Hepatomegaly, Irregular vertebr... |
OMIM:226980 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Cogni... |
ORPHA:365 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Helsmoortel-Van Der Aa Syndrome |
|
Failure to thrive, Abnormal heart morphology, Obesity, Cryptorchidism, Mitral valve prolapse, Irr... |
OMIM:615873 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenosis, Hyperl... |
OMIM:616007 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... |
OMIM:608643 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Weight l... |
ORPHA:465508 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Depression, Non-obstructive azoospermia, Decreased testicular size, Azoospermi... |
ORPHA:432 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the vagina, Aplas... |
OMIM:271520 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Pfeiffer Syndrome |
|
Short neck, Hyperlordosis |
ORPHA:710 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Platyspondyly, Lumbar hyperlordosis, Biconcave vertebral bodies, Kyphoscoliosis, Narrow vertebral... |
OMIM:271510 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hypogonadism, Small scrotum, Hyperlordosis |
ORPHA:3253 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Depression, Ventricular septal defect |
OMIM:618798 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplasia of the odontoid process, Cardiomyopathy, Anterior wedging of L1, Lumbar hyperlordosis,... |
OMIM:253200 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Hypoplasia of the odontoid process, C2-C3 subluxation, Abnormality of retinal pi... |
OMIM:272460 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary va... |
ORPHA:3427 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Tay-Sachs Disease |
|
Precocious puberty, Optic atrophy, Memory impairment, Depression, Laryngeal dystonia, Cherry red ... |
ORPHA:845 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Cor pulmonale, Failure to thrive, Abnormal heart morphology, Kyphoscoliosis, Weight loss, Hyperlo... |
ORPHA:2020 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, T lym... |
ORPHA:35078 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Precocious puberty in females, Failure to thrive, Bifid scrotum, Bilateral cry... |
ORPHA:90793 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Large for gestational age, Ventricular se... |
ORPHA:363705 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Depression, Truncus arteriosus, Ventricular septal defect, Attention deficit hyperactivity disord... |
ORPHA:261330 |
| Opitz-Kaveggia Syndrome |
|
Abnormal heart morphology, Lumbar hyperlordosis, Cryptorchidism, Attention deficit hyperactivity ... |
OMIM:305450 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c... |
OMIM:208900 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response |
OMIM:618201 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Lumbar hyperlordosis, Cryptorchidism |
OMIM:602471 |
| Townes-Brocks Syndrome 2 |
|
Scoliosis, Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of the uterus, Rod-cone dyst... |
ORPHA:2237 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Attention deficit hyperactivity disorder, Aplasia of the thymus, Doub... |
OMIM:618223 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Beaking of vertebral bodies |
OMIM:215150 |
| Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyo... |
OMIM:300967 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Cherry red spot of the macula,... |
ORPHA:79255 |
| Seckel Syndrome 7 |
|
Lumbar scoliosis, Hypoplasia of the uterus |
OMIM:614851 |
| Cantú Syndrome |
|
Platyspondyly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cuboid-shaped verteb... |
ORPHA:1517 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Pigmentary retinopathy, Abnormal form of the vertebral bodies, Dementia, Splenomeg... |
ORPHA:581 |
| Williams Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao... |
ORPHA:904 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Depression, Cardiomyopathy |
OMIM:619259 |
| Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... |
OMIM:223800 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Short neck, Lumbar hyperlordosis |
OMIM:612813 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Lumbar hyperlordosis, Ventricular septal defect, Scoliosis, Spinal canal s... |
OMIM:277600 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:168558 |
| Acromesomelic Dysplasia 1 |
|
Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Beaking o... |
OMIM:602875 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Granuloma, Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventric... |
ORPHA:363700 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Optic nerve ... |
OMIM:617914 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Failure to thrive, Attention deficit hyperactivity disorder, Short neck, Macr... |
OMIM:619950 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
| Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:162300 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Lumbar hyperlordosis, Cryptorchidism, Patent foramen ovale, Ventricular septal def... |
OMIM:616975 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Azoospermia, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ... |
OMIM:602782 |
| Desbuquois Dysplasia 2 |
|
Platyspondyly, Short neck, Lumbar hyperlordosis, Truncal obesity |
OMIM:615777 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Ventricular ... |
OMIM:601186 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Failure to thrive, Cognitive impairment, Exaggerated startle response, Kyphosis |
OMIM:617527 |
| Bethlem Muscular Dystrophy |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:610 |
| Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricula... |
OMIM:143095 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Abetalipoproteinemia |
|
Failure to thrive, Hypopigmentation of the fundus, Acanthocytosis, Reticulocytosis, Abnormality o... |
ORPHA:14 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Retinal arterial tortuosity, Splenic cyst, Cryptorchidism, Decreased body weight, Cardiomegaly, P... |
OMIM:620371 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepato... |
OMIM:620376 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Atrial septal defect, Dystonia, Scoliosis, Choreoathetosis |
ORPHA:522077 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Cognitive... |
OMIM:300257 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Lumbar kyphosis, Back pain, Lumbar hyperlordosis |
OMIM:619234 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Lumbar hyperlordosis, Cryptorchidism, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:620450 |
| Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Failure to thrive, Beaking of verte... |
OMIM:252500 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... |
ORPHA:1329 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Achondroplasia |
|
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe platyspondyly, Spinal sten... |
OMIM:100800 |
| Acromesomelic Dysplasia 4 |
|
Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Thoracic scoliosis, Beaking of verte... |
OMIM:619636 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypoplastic left heart, Failure to thrive, Mitral atresia, Muscular ventricular septal defect, He... |
OMIM:619503 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Failure to thrive, Lymphopenia, Impaired lymphocyte transformation w... |
OMIM:600802 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Gonadal dysgenesis, Hypoplastic labia majora, Rod-cone dystrophy, Hypoplasia of... |
OMIM:618419 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Short neck, Ambiguous genitalia, Single ventricle |
OMIM:619879 |
| Oeis Complex |
|
Absence of the sacrum, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous gen... |
OMIM:258040 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Exaggerated startle response |
OMIM:620114 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Partial atrioventricular canal defect, Irritability, Thrombocytopenia, Exaggerated startle respon... |
OMIM:620423 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Failure to thrive, Exaggerated startle response, Dystonia, Kyphosis |
ORPHA:521426 |
| Turnpenny-Fry Syndrome |
|
Failure to thrive, Lumbar hyperlordosis, Mitral valve prolapse, Decreased body weight, Tricuspid ... |
OMIM:618371 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis |
OMIM:617011 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Pigmentary retinopathy, Histiocytoid cardiomyopathy, Ventricular septal def... |
OMIM:309801 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Tremor, Ir... |
ORPHA:51 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Platyspondyly, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ... |
OMIM:245600 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Aplasia of the uterus, Attention deficit hyperactivity disorder, Anemia, Shor... |
OMIM:614083 |
| Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Dementia, Spina bifida oc... |
OMIM:119500 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Scoliosis, Cryptorchidism |
OMIM:618143 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Failure to thrive, Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycy... |
ORPHA:90796 |
| Norrie Disease |
|
Optic atrophy, Uterine rupture, Failure to thrive, Cryptorchidism, Irritability, Abnormal vitreou... |
ORPHA:649 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity, Scoliosis, Lumbar hyperlordosis |
OMIM:250420 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Lumbar hyperlordosis, Ventricular septal defect, Scoliosis, Spinal canal s... |
OMIM:608328 |
| Asparagine Synthetase Deficiency |
|
Failure to thrive, Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
| Sponastrime Dysplasia |
|
Precocious puberty, Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Bic... |
ORPHA:93357 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Lumbar hemivertebrae, Eunuchoid habitus |
ORPHA:2463 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dementia, Dystonia, Exaggerated startle response |
OMIM:272750 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Slender build, Large for gestational age, Lumbar hyperlordosis, Kyphoscoliosis, Micropenis, Kyphosis |
ORPHA:457359 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo... |
OMIM:300855 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Failure to thrive, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, He... |
ORPHA:137675 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular... |
OMIM:274000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepat... |
ORPHA:308552 |
| Nail-Patella Syndrome |
|
Spondylolysis, Lumbar hyperlordosis, Spondylolisthesis, Scoliosis, Back pain |
ORPHA:2614 |
| Frontorhiny |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Abnormal heart morphology, Cryptorchidism, Uterine prolapse, Ventricular sept... |
ORPHA:438213 |
| Nail-Patella Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Back pain |
OMIM:161200 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Kyphosis, Failure to thrive, Abnormal form of the vertebral... |
OMIM:194190 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis, Decreased body weight |
OMIM:182210 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Short attention span, Exaggerated startle response |
ORPHA:438216 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Decreased tes... |
ORPHA:90794 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hyperlordosis, Cervical neoplasm, Kyphoscoliosis |
ORPHA:653 |
| Carnitine Palmitoyltransferase I Deficiency |
