Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Telangiectasia, Abnormal circulating gluta... |
ORPHA:101028 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
ORPHA:408 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... |
OMIM:255600 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... |
OMIM:617404 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:600175 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dil... |
ORPHA:206546 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:280333 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Cog7-Cdg |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, Jaundice, Hepatospl... |
ORPHA:79333 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Left atrial enlargement... |
OMIM:160500 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal ... |
OMIM:609308 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Gaisböck Syndrome |
|
Plethora, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral... |
ORPHA:577 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Polycystic ovaries, Dry ... |
ORPHA:3085 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:617054 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:62 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short neck, Cryptorchidism, Splenom... |
ORPHA:1655 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Rigid Spine Syndrome |
|
Hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:97244 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... |
OMIM:252605 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Cryptorchidism, Anemia, Hyperlordosis |
ORPHA:1192 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615290 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Hyperlordosis |
ORPHA:352470 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Mildly elevated creatine kinase |
OMIM:161800 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Scoliosis, Lef... |
OMIM:613156 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Abnormal morphology of female internal gen... |
ORPHA:1797 |
Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Progeroid facial appearance, Vertebral compression fracture, Neonatal wrinkled sk... |
OMIM:231070 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
Dermatoleukodystrophy |
|
Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Kyphosis, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Scoliosis |
ORPHA:1387 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Sco... |
ORPHA:2500 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Prematurely aged appearance, Kyphosis, Cryptorchidism, Premature graying of hair, Vertebral segme... |
ORPHA:2617 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati... |
OMIM:619542 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... |
OMIM:615895 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613818 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Premature skin wrinkling |
OMIM:601349 |
Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613723 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis, Hepatomegaly |
ORPHA:796 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short neck, Thyroid lymphangiectasi... |
OMIM:235255 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the pancreas, Abnormal vagina morp... |
ORPHA:2315 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:618129 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen... |
ORPHA:353 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:615156 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:267 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae |
OMIM:222600 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Bethlem Myopathy 2 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:616471 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... |
ORPHA:2522 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... |
OMIM:603553 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:615761 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Cardio... |
ORPHA:86812 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Poor wound healing, Kyphosis, Pallor, Scoliosis, Mildly elevated c... |
ORPHA:536516 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Right ventricular dilatation, ... |
OMIM:253700 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Premature skin wrinkling |
OMIM:617950 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Scoliosis, Hyperlordosis |
OMIM:620389 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Satoyoshi Syndrome |
|
Hyperlordosis, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... |
ORPHA:3130 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Myasthenic Syndrome, Congenital, 14 |
|
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis |
OMIM:616228 |
Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Di... |
OMIM:607155 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Cog5-Cdg |
|
Hepatomegaly, Short neck, Cryptorchidism, Hepatosplenomegaly, Premature skin wrinkling, Micropenis |
ORPHA:263487 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Increased circulatin... |
OMIM:600462 |
Alg8-Cdg |
|
Hyponatremia, Abnormality of subcutaneous fat tissue, Cutis laxa, Anemia, Premature skin wrinklin... |
ORPHA:79325 |
Dengue Fever |
|
Hepatomegaly, Thrombocytopenia, Leukopenia, Bruising susceptibility, Hypoproteinemia, Petechiae |
ORPHA:99828 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Micropenis, Scheuermann-like ver... |
OMIM:301900 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
Ck Syndrome |
|
Abnormal circulating cholesterol concentration, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:251383 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Facioscapulohumeral Dystrophy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
ORPHA:269 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... |
OMIM:606612 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral h... |
OMIM:616817 |
Myopathy, Centronuclear, 1 |
|
Mildly elevated creatine kinase, Hyperlordosis |
OMIM:160150 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Elevated circulat... |
OMIM:300280 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... |
ORPHA:3041 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism |
OMIM:618512 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:613157 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Nicolaides-Baraitser Syndrome |
|
Excessive wrinkled skin, Cryptorchidism, Abnormal testis morphology, Scoliosis |
ORPHA:3051 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis |
ORPHA:1548 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Ataxia-Telangiectasia |
|
Prematurely aged appearance, Telangiectasia of the skin, Abnormal testis morphology, Polycystic o... |
ORPHA:100 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... |
ORPHA:99642 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:98855 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers |
ORPHA:498359 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Congenital Myopathy 8 |
|
Scoliosis, Cardiomegaly |
OMIM:618654 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Angiokeratoma... |
OMIM:230000 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98863 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... |
ORPHA:98853 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... |
OMIM:264180 |
Nemaline Myopathy 2 |
|
Spinal rigidity, Mildly elevated creatine kinase, Scoliosis, Hyperlordosis |
OMIM:256030 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... |
ORPHA:26793 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... |
OMIM:253000 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:167320 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis |
OMIM:618363 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnorma... |
OMIM:615980 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... |
OMIM:602557 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea |
ORPHA:91351 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Cardiomyopathy, Abnormality of... |
ORPHA:52430 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Hyperlordosis, Right ventricular dilatation, Abnormal circulating creatine kinase c... |
ORPHA:369840 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Pallor |
ORPHA:2786 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... |
ORPHA:93352 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis, Cutis laxa |
OMIM:619451 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Thoracol... |
ORPHA:1159 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Dilated cardiomyopathy, Lumbar hyperlordosis, Scoliosis |
OMIM:255310 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis |
OMIM:611588 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... |
ORPHA:247585 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Hyperlordosis |
OMIM:619980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric... |
ORPHA:167 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:617352 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodi... |
OMIM:619698 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Cutis marmorata, Scoliosis |
OMIM:619719 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cryptorchidism, Jaundice, Hypoproteinemia |
OMIM:608093 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy |
OMIM:618234 |
Short Syndrome |
|
Ovarian cyst, Premature skin wrinkling, Prominent superficial veins |
OMIM:269880 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis |
OMIM:617450 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
OMIM:615084 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral ... |
ORPHA:354 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Kyphosis, Scoliosis |
ORPHA:2598 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Kyphoscoliosis, Acanthocytosis, Short neck, Scoliosis, Poikilocytosis, Prematu... |
OMIM:618947 |
Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Dilated cardiomyopathy, Cardio... |
OMIM:310200 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal circulating creatine ... |
OMIM:620249 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert... |
OMIM:252920 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Sco... |
OMIM:618484 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Scoliosis, Bruising susceptibility, Fragile skin |
OMIM:617821 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Thoracic scoliosis, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poo... |
OMIM:618000 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, Kyphosis, Cryptorchidism, Lack of... |
OMIM:615381 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation |
OMIM:184250 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym... |
OMIM:230500 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Lymphangioma, Ovarian neoplasm |
ORPHA:137608 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:435387 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... |
ORPHA:85451 |
Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling |
ORPHA:1942 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hyperlordosis, Thoracic kyphosis, Hypocalcemia, Scoliosis |
ORPHA:557003 |
Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:619040 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Atrial septal defec... |
OMIM:618870 |
Fg Syndrome Type 1 |
|
Sacral dimple, Hypospadias, Facial wrinkling, Cryptorchidism, Mitral valve prolapse, Small pituit... |
ORPHA:93932 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... |
ORPHA:786 |
Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:619185 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Schwartz-Jampel Syndrome, Type 1 |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Elevated circulating creatin... |
OMIM:255800 |
Autosomal Recessive Centronuclear Myopathy |
|
Left ventricular hypertrophy, Abnormal heart valve morphology, Hyperlordosis |
ORPHA:169186 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
Three M Syndrome 1 |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreas... |
OMIM:273750 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... |
ORPHA:171436 |
Alg1-Cdg |
|
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Excessive wrinkled skin, Platyspo... |
ORPHA:1860 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Vascular skin abnormality, Scoliosis, Cardiomegaly |
ORPHA:3137 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes |
OMIM:269920 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism... |
ORPHA:500 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Progeroid facial appearance, Cryptorchidism, Cutis laxa, Pulmonic stenosis, Testi... |
ORPHA:75496 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Erythema, Urticaria, Scoliosis, Dry skin |
ORPHA:816 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy |
OMIM:618237 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... |
ORPHA:582 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Absent ni... |
OMIM:612289 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Hyperlordos... |
ORPHA:26791 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis |
ORPHA:353327 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... |
ORPHA:2789 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Cardiomegaly, Hyperlordosis,... |
ORPHA:268 |
Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Hypospadias, Facial wrinkling, Short neck, Cryptorchidism, A... |
OMIM:305450 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
OMIM:611890 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Abnormal intrahepatic ... |
ORPHA:363618 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal defect |
ORPHA:352490 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Scoliosis, Generalized abnormality of skin |
ORPHA:61 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis |
OMIM:114300 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... |
OMIM:619991 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Short neck, Cardiomegaly, Secundum at... |
OMIM:300855 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal ri... |
OMIM:613327 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Werner Syndrome |
|
Low back pain, Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Proger... |
OMIM:277700 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:253010 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology,... |
ORPHA:2075 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
ORPHA:352447 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Telangiectasia of the skin, Lack of skin elasticity, Mitral valv... |
ORPHA:758 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Scoliosi... |
ORPHA:3191 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Sc... |
OMIM:612940 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Geroderma Osteodysplastica |
|
Prematurely aged appearance, Redundant skin, Vertebral compression fracture, Abnormal form of the... |
ORPHA:2078 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, ... |
OMIM:216550 |
Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ... |
ORPHA:77259 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... |
ORPHA:64755 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ... |
ORPHA:349 |
Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Thorac... |
OMIM:617114 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:314580 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... |
OMIM:608776 |
Sialidosis Type 2 |
|
Splenomegaly, Kyphosis, Hepatomegaly |
ORPHA:87876 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial se... |
OMIM:618652 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Portal hypertension, H... |
OMIM:613385 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Barber-Say Syndrome |
|
Absent nipple, Redundant skin, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora... |
OMIM:209885 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... |
ORPHA:2311 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Cardiomegaly |
OMIM:613576 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Uteri... |
ORPHA:1439 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Poor wound healing, Kyphosis, Bruising susceptibility, Scoliosis |
OMIM:130060 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse, Scoliosis, Hyperlordosis |
OMIM:300986 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Scoliosis, Hyperlordosis |
ORPHA:3353 |
Arthrogryposis, Distal, Type 5D |
|
Hypoplastic labia majora, Hyperlordosis, Scoliosis, Short neck |
OMIM:615065 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Cervical neoplasm, Hypercalcemia, Kyphoscoliosis, Hyperlordo... |
ORPHA:653 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Dilatation of the ventricular c... |
ORPHA:90348 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:48431 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis, Progeroid facial appearance |
ORPHA:79087 |
Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Premature skin wrinkling, Decreased testicular size, Scoliosis |
ORPHA:435628 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Scoliosis |
ORPHA:75840 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
3M Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... |
OMIM:239850 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,... |
OMIM:242900 |
Three M Syndrome 3 |
|
Increased vertebral height, Hyperlordosis, Short neck |
OMIM:614205 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, Secundum atrial sep... |
OMIM:608779 |
Stuve-Wiedemann Syndrome 1 |
|
Premature skin wrinkling, Ovoid vertebral bodies, Scoliosis, Short neck |
OMIM:601559 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis |
ORPHA:3068 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter, Fl... |
OMIM:162300 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... |
ORPHA:2232 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:618443 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size |
OMIM:615433 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... |
OMIM:212140 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Scoliosis, Hyperlordosis |
ORPHA:1323 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic... |
OMIM:619123 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:2471 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... |
OMIM:607944 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Nicolaides-Baraitser Syndrome |
|
Cryptorchidism, Excessive wrinkled skin, Periorbital wrinkles, Scoliosis, Premature skin wrinkling |
OMIM:601358 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Redundant skin, Kyphosis, Uterine leiomyoma, Platyspondyly, Palmoplantar cu... |
OMIM:616482 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Hypospadias, Pr... |
OMIM:264090 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... |
OMIM:617796 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Enlarged kidney, Lumbar kyphosis, Hepatosplen... |
ORPHA:505248 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Kyphosis, Cryptorchidism, Hyperu... |
ORPHA:191 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Thoracic scoliosis, Hypospadias, Hypergonadotropic hypogonadism, Lack o... |
ORPHA:2959 |
Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Kyphosis, Pituitary adenoma, Facial erythema, Hypokalemia, Biconcave vertebra... |
OMIM:219090 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse |
ORPHA:171881 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Excessive wrinkled skin, Redundant skin, Scoliosis, Cutis laxa |
OMIM:219200 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Progeroid facial appearance, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism |
ORPHA:90322 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal subcutaneous fat tissue distributio... |
ORPHA:1328 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Abnormal cardiac septum morphology, Scoliosis, Aplasia of the uterus, T... |
ORPHA:3320 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor... |
ORPHA:860 |
Pycnodysostosis |
|
Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal... |
ORPHA:763 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
De Barsy Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Progeroid facial appearance, Cryptorchidism, Prominent... |
ORPHA:2962 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Hyperlipidemia, Platy... |
ORPHA:1830 |
Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ... |
OMIM:607095 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Ovarian cyst, Bruising susceptibility, Pancreatitis, Striae distensae |
OMIM:610475 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Redundant skin, Short neck, Cryptorchidism, Excessive wrinkled s... |
ORPHA:1340 |
3Mc Syndrome |
|
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Prominent coccyx, Scoliosis, Spina... |
ORPHA:293843 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... |
OMIM:618886 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619797 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Baralle-Macken Syndrome |
|
Kyphosis, Striae distensae |
OMIM:619255 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:370959 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:618138 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:568 |
Sialidosis Type 1 |
|
Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Vascular skin abnormality |
ORPHA:812 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Kyphosis, Cryptorchidism, Hypogonadism, Micropenis, Decreased testicular size, Stria... |
OMIM:300354 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hyperlordosis,... |
OMIM:616007 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Premature graying of hair, Anemia, Excessive wrinkled skin, Bone m... |
ORPHA:3322 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Mitral valve prolapse |
ORPHA:2848 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordo... |
ORPHA:175 |
Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Short neck |
OMIM:612921 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis |
ORPHA:583 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Redundant skin, Progeroid facial appearance, Poor wound healing, Prema... |
OMIM:123700 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Prematurely aged appearance, Redundant skin |
ORPHA:1807 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... |
OMIM:617022 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Ectodermal dysplasia, Small scrotum, Hypogonadism, Hyperlordosis |
ORPHA:3253 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu... |
ORPHA:2969 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, P... |
OMIM:226980 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Redundant... |
OMIM:602875 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... |
OMIM:169400 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:180870 |
Wrinkly Skin Syndrome |
|
Redundant skin, Progeroid facial appearance, Kyphosis, Muscular ventricular septal defect, Crypto... |
OMIM:278250 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology |
ORPHA:174 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Prematurely aged appearance |
ORPHA:633 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
3C Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Sh... |
ORPHA:7 |
Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Chromosome 10Q26 Deletion Syndrome |
|
Lumbar hyperlordosis, Small scrotum, Short neck, Cryptorchidism, Atrial septal defect, Micropenis |
OMIM:609625 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Scoliosis |
OMIM:300602 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... |
OMIM:300942 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn... |
ORPHA:94065 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... |
OMIM:250250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Prematurely aged appearance, Pancreatic cysts, Abnor... |
ORPHA:1318 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Hidrotic ectodermal dysplasia, Scoliosis |
ORPHA:1883 |
Meacham Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... |
ORPHA:3097 |
Thanatophoric Dysplasia |
|
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Atrial septal defect |
ORPHA:2655 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck |
OMIM:615222 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis,... |
ORPHA:254346 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... |
ORPHA:1427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Progeroid facial appearance, Polycystic o... |
ORPHA:79086 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomy... |
OMIM:212720 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect, Displacemen... |
ORPHA:3378 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, ... |
ORPHA:79330 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Short neck, Micropenis, Platyspondyly, Hype... |
OMIM:616897 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligozoospermia |
OMIM:614813 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism |
ORPHA:3409 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis, Anemia |
OMIM:184850 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis |
OMIM:609008 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... |
ORPHA:2916 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column, Bicornuate uterus |
OMIM:601076 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse |
ORPHA:137834 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Weismann-Netter Syndrome |
|
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Bethlem Myopathy |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity |
ORPHA:610 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyphoscoliosis, Ante... |
OMIM:253200 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta |
OMIM:617466 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ... |
OMIM:271520 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Hyper... |
ORPHA:280365 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Abnormal heart morphology, Parathyroid hypo... |
ORPHA:2237 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Sco... |
OMIM:248800 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Test... |
ORPHA:363958 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Kyphosis, Platyspondyly, Redundant skin |
ORPHA:93274 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ... |
ORPHA:740 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis |
OMIM:615834 |
Trichorhinophalangeal Syndrome Type 1 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance |
ORPHA:50811 |
Arthrogryposis, Distal, Type 4 |
|
Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Lumbar scoliosis |
OMIM:614851 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cryptorchidism, Cutis laxa, Excessive wrinkled skin, Dermal transluc... |
OMIM:614438 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue, Scoliosis |
ORPHA:1901 |
Ablepharon-Macrostomia Syndrome |
|
Redundant skin, Hypoplastic labia majora, Premature skin wrinkling, Hypoplastic nipples, Ambiguou... |
OMIM:200110 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... |
ORPHA:392 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Cowden Syndrome 5 |
|
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Subcutaneous lipoma, Goiter |
OMIM:615108 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, Lumbar ky... |
OMIM:619234 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Cryptorchidism, Lumbar hyperlordosis |
OMIM:602471 |
Cowden Syndrome 6 |
|
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Varicocele, Subcutaneous lipoma, Goiter |
OMIM:615109 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Enlarged kidney |
OMIM:618272 |
Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Cutaneous photosensitivity, Hypoalbuminemia, Scoliosis, Dry skin |
OMIM:610965 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, Ventricular septal defect, External genital hypoplasia, Short neck, Cryptor... |
ORPHA:251028 |
Noonan Syndrome 14 |
|
Short neck, Cryptorchidism, Kyphosis, Dry skin, Mitral valve prolapse, Pulmonic stenosis, Hypertr... |
OMIM:619745 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
Flynn-Aird Syndrome |
|
Kyphosis, Skin ulcer, Scoliosis |
ORPHA:2047 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Cutis marmorata, Progeroid facial appearance, Micropenis, Cutaneous photosensitivity, Panhypopitu... |
OMIM:300953 |
Diastrophic Dysplasia |
|
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... |
ORPHA:628 |
Werner Syndrome |
|
Prematurely aged appearance, Telangiectasia of the skin, Lack of skin elasticity, Skin ulcer, Ova... |
ORPHA:902 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Hepat... |
OMIM:615356 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Kyphosis, Macronodular adrenal hyperplasia, Bruising susceptibility, Striae ... |
OMIM:219080 |
Schaaf-Yang Syndrome |
|
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis |
OMIM:615547 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck |
OMIM:613320 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei... |
ORPHA:357074 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab... |
ORPHA:555874 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Progeroid facial appearance |
ORPHA:357058 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Saethre-Chotzen Syndrome |
|
Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Cowden Syndrome 1 |
|
Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Lymphopenia, Varicocele, ... |
OMIM:158350 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly |
OMIM:215150 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hyperlordosis, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis |
ORPHA:261190 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:168558 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Micropenis, Scolio... |
OMIM:619951 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vert... |
ORPHA:2839 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... |
OMIM:253220 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve... |
OMIM:271510 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck |
ORPHA:3082 |
Bloom Syndrome |
|
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia |
ORPHA:125 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Facial erythema, Hypocalcemia, Scaling ski... |
OMIM:619503 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:289548 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Decreased response to growth hormone stimulation test, Micr... |
ORPHA:324737 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy... |
ORPHA:800 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Hypospadias, Kyphosis, Cryptorchidism, Vertebral segment... |
ORPHA:96169 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis |
ORPHA:404440 |
Trichothiodystrophy |
|
Ventricular septal defect, Prematurely aged appearance, Cryptorchidism, Increased mean corpuscula... |
ORPHA:33364 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, Sc... |
ORPHA:365 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Emanuel Syndrome |
|
Sacral dimple, Truncus arteriosus, Ventricular septal defect, Kyphosis, Cryptorchidism, Micropeni... |
OMIM:609029 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Alexander Disease |
|
Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis |
ORPHA:58 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... |
ORPHA:1517 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cardiomyopathy, Highly elevated creatine kinase, Scoliosis, Hyperlordosis |
ORPHA:258 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly |
OMIM:607015 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis |
OMIM:248700 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... |
OMIM:618419 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Normoch... |
OMIM:615512 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... |
OMIM:277600 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Kyphoscoliosis, Cardiomeg... |
ORPHA:14 |
Hallermann-Streiff Syndrome |
|
Hyperlordosis, Cryptorchidism, Telangiectasia, Scoliosis, Dry skin |
OMIM:234100 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Short neck |
ORPHA:247768 |
Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa |
ORPHA:2963 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Kyphoscoliosis, Excessive wrinkled skin, Platyspondyly, Palmoplantar cutis la... |
OMIM:225400 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Progeroid facial appearance, Cryptorchidism, Scoliosis, Increased blood urea nitrog... |
ORPHA:90321 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Meckel Syndrome 14 |
|
Cyanosis, Short neck, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle |
OMIM:619879 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Progeroid facial ... |
OMIM:216400 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Hurler Syndrome |
|
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Enlarged to... |
OMIM:607014 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464282 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect |
OMIM:603387 |
Frontorhiny |
|
Hypopituitarism, Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... |
ORPHA:573278 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Cryptorchidism, Lumbar hyperlordosis, Hyperlordosis |
OMIM:616078 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... |
OMIM:601186 |
Stickler Syndrome, Type I |
|
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... |
OMIM:108300 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Progeroid facial appearance, Hypoplasia of the odontoid process, Irr... |
OMIM:618150 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Pericardial effusion, Kyphosis, Abnor... |
OMIM:212065 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... |
OMIM:301040 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:3121 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD... |
ORPHA:221139 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Fountain Syndrome |
|
Cutis marmorata, Kyphosis, Erythema, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi... |
ORPHA:3219 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Hypospadias, Cutis marmorata, Kyphosis, Cryptorchidism, Scoliosis, Atr... |
OMIM:617602 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Hypertriglyceridemia, ... |
OMIM:606721 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Lack of skin elasticity, ... |
OMIM:608328 |
Distal Deletion 10Q |
|
Atrial septal defect, Lumbar hyperlordosis, Spina bifida occulta |
ORPHA:96148 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At... |
ORPHA:314588 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:608836 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... |
OMIM:143095 |
Down Syndrome |
|
Abnormality of the lymphatic system, Prematurely aged appearance, Acute megakaryocytic leukemia, ... |
ORPHA:870 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Kyphosis, Ventricular septal defect |
OMIM:619909 |
Arterial Tortuosity Syndrome |
|
Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Myocarditis, Dilated car... |
ORPHA:3342 |
Harrod Syndrome |
|
Kyphosis, Hypospadias, Scoliosis, Cryptorchidism |
ORPHA:2115 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... |
OMIM:272460 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... |
ORPHA:958 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Sacral dimple, Prematurely aged appearance, Short neck, Hype... |
OMIM:619950 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Kyphosis, Scoliosis, Atrial septal defect, Clitoral hyper... |
OMIM:616449 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu... |
ORPHA:261250 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, R... |
ORPHA:904 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Hepatosplenome... |
OMIM:309900 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Progeroid facial ... |
OMIM:133540 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... |
ORPHA:1724 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Mildly elevated creatine kinase, Scoliosis, Spinal rigidity |
OMIM:254090 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Precocious puberty, Kyphosis, Cryptorchidism, Hypopla... |
ORPHA:398069 |
Wrinkly Skin Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Prominen... |
ORPHA:2834 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... |
OMIM:619636 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia... |
OMIM:608013 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Increased serum... |
OMIM:252500 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Kyphosis, Mitral valve prolapse... |
OMIM:616914 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Dry skin, Cryptorchidism |
OMIM:619244 |
Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Abnormal heart morphology, Scoliosis |
ORPHA:2020 |
Micro Syndrome |
|
Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Sco... |
ORPHA:2510 |
Oeis Complex |
|
Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Sacral segmentation defect, Hemi... |
OMIM:258040 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... |
OMIM:300967 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... |
ORPHA:3427 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperlordosis, Cryptorchidism, Pineal cyst... |
OMIM:615873 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Livedo reticularis, Dry skin, Anemia, Scaling skin, Cutaneous photos... |
OMIM:620370 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Redundant skin, Prematurely ... |
ORPHA:2658 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Progeroid facial appearance, Cutis laxa, Scoliosis, Aortic valve stenosi... |
OMIM:208050 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Hyperlordosis |
ORPHA:261330 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Hypertriglyceridemia, Redundant skin, Kyphoscoliosis, Pericard... |
ORPHA:536532 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... |
OMIM:610443 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Hyperuricemia |
ORPHA:261222 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Redundant skin, Excessive wrinkled skin, Ambiguous genitalia, Abnormality of... |
ORPHA:920 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Cutis laxa, Platyspondyly... |
OMIM:245600 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Scoliosis, Cardiomegaly |
OMIM:618143 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Cryptorchidism, Scoliosis, Annular ... |
OMIM:616975 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Micropenis, Scoliosis, Cryptorchidism |
ORPHA:364028 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor... |
OMIM:130720 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance |
OMIM:608154 |
Desbuquois Dysplasia 2 |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia |
ORPHA:228123 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly |
ORPHA:2463 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Micropenis |
OMIM:619718 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance, Hyperlipidemia, Lack of skin elasticity... |
ORPHA:90153 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Prematurely aged appearance, Poor wound healing, Cervical insufficiency, Mitral... |
ORPHA:287 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Dry skin, Chronic lymphatic ... |
ORPHA:51 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... |
OMIM:615300 |
Okamoto Syndrome |
|
Redundant neck skin, Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventric... |
ORPHA:2729 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... |
OMIM:620306 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Mitral valve... |
ORPHA:363700 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Atrial septal defect, Scoliosis |
OMIM:617190 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Hypertriglyceridemia, Prematurely aged appearance, Telangiectasia of... |
ORPHA:79474 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Pancreatitis, Progeroid facial appearance |
ORPHA:412057 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Ky... |
OMIM:616894 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis |
OMIM:617061 |
Short Syndrome |
|
Excessive wrinkled skin |
ORPHA:3163 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Coffin-Lowry Syndrome |
|
Redundant skin, Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphol... |
ORPHA:192 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Mildly elevated creatine kinase |
OMIM:620351 |
Familial Aortic Dissection |
|
Cutis marmorata, Cardiomegaly |
ORPHA:229 |
Seckel Syndrome |
|
Prematurely aged appearance, Scoliosis |
ORPHA:808 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size |
ORPHA:85293 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Progeroid facial appearance, Scoliosis, Dry... |
OMIM:614008 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Extrahepatic portal hypertension, Rectocele, Hepatic arteriovenous malf... |
ORPHA:2929 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Scoliosis |
OMIM:161200 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect, Lumbar hyperlordosis, Scoliosis |
ORPHA:522077 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa... |
ORPHA:1329 |
Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:176270 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Redundant skin, Progeroid facial appearance, Cutis laxa, Hypoplasia of the thym... |
OMIM:613177 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:2614 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Scol... |
ORPHA:2215 |
Trisomy 20P |
|
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr... |
ORPHA:261318 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Short neck, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, A... |
OMIM:614083 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal form of th... |
ORPHA:581 |
Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... |
OMIM:203500 |
Tetrasomy 9P |
|
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria |
ORPHA:3310 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ... |
OMIM:256040 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Hypospadias, Short neck, Hypoplastic 5t... |
ORPHA:955 |
Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Splenomegaly, Kyphosis, Hepatosplenomegaly, Cardiomyopathy, Abn... |
ORPHA:576 |
Truncus Arteriosus |
|
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal hear... |
ORPHA:3384 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... |
OMIM:274000 |
Ramon Syndrome |
|
Enlarged labia minora, Angiokeratoma, Kyphosis, Telangiectasia, Scoliosis |
OMIM:266270 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Kyphosis, ... |
ORPHA:79329 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Ectodermal dysplasia, Hypospadias |
OMIM:609944 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:250420 |
Cohen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Kyphosis, Mitral valve prolapse, Scoliosis, Neutropenia |
ORPHA:193 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Prematurely aged appearance, Progeroid facial appearance |
ORPHA:90154 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis, Mitral valve prolapse |
OMIM:177850 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Micropenis... |
OMIM:619005 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Prematurely aged appearance, Scoliosis |
OMIM:601812 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of the vertebral spinous processes, Prematurely aged appearance, Abnormal atrial sept... |
ORPHA:909 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Kyphosis, Male urethral meatus stenosis, Scoliosis, Atria... |
ORPHA:464738 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cutis marmorata, Bicuspid aortic valve, Cardiomegaly, Scoliosis, Bruising susceptibility |
ORPHA:91387 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon... |
ORPHA:744 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Ventricular septal defect, Hypospadias, Precoc... |
OMIM:194190 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis |
ORPHA:500055 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Progeroid facial appearance |
OMIM:300578 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... |
ORPHA:140 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphosis, Micropenis, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:457359 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Pallor |
ORPHA:137675 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:1507 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S... |
ORPHA:251014 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Kyphosis, Adenoma ... |
ORPHA:201 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Cryptorchidism, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol... |
ORPHA:401973 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphosc... |
OMIM:249420 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Complete atrioventricular canal defect, Hypercalcemia, Scoliosis |
ORPHA:476126 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body, Hypocalcemia |
OMIM:618476 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Unicornuat... |
OMIM:614527 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Progeroid facial appearance |
OMIM:617763 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Angiokeratoma corporis diffusum, Platyspondyly, S... |
OMIM:208400 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Bruising susceptibility, Striae distensae |
OMIM:610489 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Anemia, Pulmonic stenosis, Thrombocytopenia |
OMIM:620185 |
Scleromyxedema |
|
Aged leonine appearance, Generalized abnormality of skin, Elevated circulating creatine kinase co... |
ORPHA:167635 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo... |
OMIM:265000 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Scoliosis |
ORPHA:457284 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Dextrocardia, Hypospadias, Situs inversus t... |
ORPHA:2461 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Hypercholesterolemia, Scoliosis |
ORPHA:2479 |
Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Precocious puberty, Hyperconvex vertebral body... |
ORPHA:93357 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Hypospadias, Cutis marmorata... |
ORPHA:818 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Kyphosis, Cryptorchidism, Abno... |
ORPHA:1606 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Kyphosis, Cryptorchidism, Micropenis, Posterior pituitary... |
ORPHA:464311 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Fragile skin, Cardiomegaly |
ORPHA:158687 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal heart valve morphology, Hypospadias, Kyphosis, Cryptorchidism, Abnormalit... |
ORPHA:280 |
2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size |
ORPHA:261349 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Urticaria, Cutaneous photosensitivity, Prematurely aged appearance, Dry skin |
ORPHA:220295 |
Branchioskeletogenital Syndrome |
|
Abnormality of the vertebral spinous processes, Absent nipple, Thoracolumbar kyphoscoliosis, Shor... |
ORPHA:1299 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... |
ORPHA:1855 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Lymphopenia, Rectovaginal fistula |
OMIM:619708 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Scoliosis |
ORPHA:1969 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column |
ORPHA:77301 |
Cdags Syndrome |
|
Kyphosis, Hypospadias, Rectovaginal fistula |
OMIM:603116 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Ectodermal dysplasia, Periorbital wrinkles, Hypoplastic nipples, Dry skin |
OMIM:614941 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Decreased adipose tissue around neck, Prominent superficial veins, Progeroid faci... |
OMIM:608612 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
Poland Syndrome |
|
Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, V... |
ORPHA:2911 |
Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617988 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the... |
ORPHA:2879 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... |
ORPHA:90794 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... |
ORPHA:3042 |
Branchiooculofacial Syndrome |
|
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Premature... |
OMIM:113620 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Kyphosis, Cryptorchidism, ... |
ORPHA:464306 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly,... |
ORPHA:116 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Weaver Syndrome |
|
Kyphosis, Cryptorchidism, Cutis laxa, Hydrocele testis, Scoliosis |
OMIM:277590 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... |
OMIM:259770 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Redundant skin, Prematurely aged appearance, Telang... |
ORPHA:286 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas... |
OMIM:602535 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... |
ORPHA:69085 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... |
OMIM:309801 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abn... |
ORPHA:95430 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... |
ORPHA:268261 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous photosensitivity, Hypogonadism, Progeroid facial appearance |
OMIM:610651 |
Loeys-Dietz Syndrome |
|
Striae distensae, Bruising susceptibility, Scoliosis, Uterine rupture |
ORPHA:60030 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:224900 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Classic Homocystinuria |
|
Hepatomegaly, Kyphosis, Urticaria, Scoliosis, Subcutaneous hemorrhage |
ORPHA:394 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Ventricular septal defect, Hypospadias, Cutis marmorata, Kyphosis, Cryptorchidism,... |
OMIM:135900 |
Iniencephaly |
|
Absent vertebra, Hyperlordosis |
ORPHA:63259 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, A... |
OMIM:618371 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... |
ORPHA:79280 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Mend Syndrome |
|
Sacral dimple, Redundant neck skin, Kyphosis, Cryptorchidism, Aortic valve stenosis |
OMIM:300960 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Splenomegaly, Kyphosis, Premature graying of hair, Cardiomyopathy, Scoliosis, Cutan... |
ORPHA:90324 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... |
OMIM:615919 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis |
OMIM:618493 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial sep... |
ORPHA:980 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A1c, Progeroi... |
OMIM:619127 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis |
OMIM:300966 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi... |
OMIM:201750 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Kyphoscoliosis, Hemivertebrae, Abnormal heart morpholog... |
ORPHA:500150 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Lack of facial subcutaneous fat, Scoliosis |
OMIM:614098 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypoplastic sweat glands, Hyperlordosis |
ORPHA:73223 |
Acromegaly |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Kyphosis, Wide ... |
ORPHA:963 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Kyphosis, Pitui... |
ORPHA:314769 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re... |
OMIM:304150 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Short neck, Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue c... |
OMIM:256520 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Kyphosis, Cryptorchidism, Skin ulcer, Anemia, A... |
ORPHA:534 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky... |
OMIM:309000 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Kyphosis, Lumbar kyphosis, Cutis laxa, Scoliosis, Uterine prolapse, Acrocyanosis |
OMIM:303600 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypopl... |
ORPHA:3472 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicula... |
ORPHA:3063 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:619194 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abn... |
ORPHA:666 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Hypohidrotic ectodermal dysplasia... |
OMIM:305100 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl... |
OMIM:276820 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Scoliosis |
OMIM:618050 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Bifid scrotum, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Kyphosis... |
OMIM:619475 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... |
ORPHA:99413 |
Mosaic Monosomy X |
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Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... |
ORPHA:881 |
Zttk Syndrome |
|
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ... |
OMIM:617140 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Ventricular septal defect |
ORPHA:1393 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Precocious puberty, Kyphosis, Abnormal heart morphology, Hypertrophic... |
ORPHA:97685 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis |
ORPHA:521426 |
Marfan Syndrome |
|
Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Striae distensae, Spondyl... |
ORPHA:558 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Hypospadias |
ORPHA:85199 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Cardiomegaly, Pericardial effusion, Myocardial calcification, ... |
ORPHA:51608 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Short nec... |
OMIM:261540 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort... |
OMIM:182250 |
Peters Plus Syndrome |
|
Sacral dimple, Hypospadias, Short neck, Cryptorchidism, Bicuspid pulmonary valve, Hypoplasia of t... |
ORPHA:709 |
Occipital Horn Syndrome |
|
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis, Bruising susceptibility |
ORPHA:198 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Pheochromocytoma, Sco... |
ORPHA:636 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Ventricular septal defect, Hypercalcemia, Hypospadias, Phimosis, Cryptor... |
ORPHA:821 |
Kid Syndrome |
|
Scaling skin, Progeroid facial appearance |
ORPHA:477 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Bicuspid aortic valve, Hypospadias, Kyphoscoliosis, Cryptorchidism, Scoliosis |
OMIM:309800 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Kyphosis, Cryptorchidism, Erythema, Urticaria, Platyspondyly, Abnormality of the vertebral column... |
ORPHA:2273 |
Stickler Syndrome |
|
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl... |
ORPHA:828 |
Alström Syndrome |
|
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... |
ORPHA:64 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Norrie Disease |
|
Cryptorchidism, Scoliosis, Uterine rupture |
ORPHA:649 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Viss Syndrome |
|
Prominent superficial blood vessels, Ventricular septal defect, Coronary sinus enlargement, Kypho... |
OMIM:619472 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Pallister-Killian Syndrome |
|
Sacral dimple, Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Kypho... |
OMIM:601803 |
Yunis-Varon Syndrome |
|
Absent nipple, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Hypospadias, ... |
OMIM:216340 |
Primrose Syndrome |
|
Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concentration, Bilateral c... |
OMIM:259050 |