Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
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, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
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 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
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 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
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 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
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 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Ataxia, Urinary incontinence, Abnormal tendon morphology, Reduced sperm motility, Infertility, Tr... |
ORPHA:320391 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
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 |
Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Elevated circulating creatine kinase concentration, Oli... |
OMIM:602668 |
Xp21 Deletion Syndrome |
|
Increased muscle fatiguability, Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hyp... |
ORPHA:261476 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Failure to thrive, Increased muscle fatiguability, Abnormal heart ... |
OMIM:618250 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Increased muscle fatiguability, Elevated circulating creatine kinase concentration, Abno... |
OMIM:123320 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Myotonia, Abnormal muscle fiber morphology, Impaired myocardial contractili... |
ORPHA:681 |
Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Ab... |
ORPHA:481 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricular block, Facial dipleg... |
OMIM:160900 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ... |
ORPHA:98855 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... |
ORPHA:684 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... |
ORPHA:488650 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Abnormal EKG, Orthostatic hypotension, Hyperinsulinemia, Elevated circulating creatinine... |
ORPHA:230 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ... |
ORPHA:261 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Fatigue, Increased muscle fatiguability, Ataxia, Gait ataxia, Myopathy |
OMIM:613077 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ... |
ORPHA:98863 |
Adenosine Monophosphate Deaminase Deficiency |
|
Elevated creatine kinase after exercise, Exercise-induced myalgia, Myalgia, Exercise-induced musc... |
ORPHA:45 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Decreased fertility, Calf muscle hypertrophy,... |
OMIM:313200 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Exercise-induced myalgia... |
OMIM:615511 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Exercise intolerance, Hand muscle atrophy, Distal lower limb amyotrophy, Handgrip myotonia, Myoto... |
ORPHA:324442 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine ki... |
ORPHA:26791 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Exercise-induced muscle fatigue, Bact... |
ORPHA:1330 |
Corticosteroid-Binding Globulin Deficiency |
|
Fatigue, Increased muscle fatiguability, Decreased circulating cortisol level, Hypertension, Hypo... |
OMIM:611489 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Myalgia, Exercise... |
ORPHA:369847 |
Glycogen Storage Disease Vii |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Increased variability i... |
OMIM:232800 |
Zebra Body Myopathy |
|
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ... |
ORPHA:97240 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Abdominal pain, Cardiomegaly, Congestive heart ... |
OMIM:235200 |
Lead Poisoning |
|
Fatigue, Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Decreased female l... |
ORPHA:330015 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentration, Flexion co... |
OMIM:310440 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability, Elevated circulating N,N-dimethylglycine concentration, Fish odor... |
OMIM:605850 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
Thyrotoxic Periodic Paralysis |
|
Myotonia, Thyrotoxicosis with diffuse goiter, Impaired myocardial contractility, Exercise-induced... |
ORPHA:79102 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomegaly, Arthralgia, Hypothyroidism, Fatigue, Hypogonadotropic hypogo... |
ORPHA:465508 |
Pure Mitochondrial Myopathy |
|
Exercise intolerance, Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyo... |
ORPHA:254854 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Mya... |
ORPHA:2364 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentrati... |
ORPHA:682 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability, Fish odor, Elevated circulating creatine kinase concentration |
ORPHA:243343 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Rhabdomyolysis, Exercise-induced myalgia, Myopathy, Exercise-induced muscle fatigue, Hype... |
ORPHA:713 |
Stormorken Syndrome |
|
Increased muscle fatiguability, Epistaxis, Subarachnoid hemorrhage, Elevated circulating creatine... |
OMIM:185070 |
Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... |
OMIM:160800 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Inguinal hernia, Shoulder flexion contracture, Elevated... |
OMIM:255800 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella, Situs inversus totalis |
OMIM:620197 |
Brody Disease |
|
Somatic sensory dysfunction, Myotonia, Flexion contracture, Skeletal muscle hypertrophy, Percussi... |
OMIM:601003 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Myotonia, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Upper... |
ORPHA:209335 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy |
OMIM:616323 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mya... |
OMIM:255700 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia, Premature ovarian insufficiency |
ORPHA:391307 |
Rippling Muscle Disease 2 |
|
Elevated circulating creatine kinase concentration, Muscle mounding, Skeletal muscle hypertrophy,... |
OMIM:606072 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic... |
OMIM:157640 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Elevated circulating creatine kinase concen... |
OMIM:608390 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Ciliary Dyskinesia, Primary, 12 |
|
Exercise intolerance, Situs inversus totalis, Abnormal central microtubular pair morphology of re... |
OMIM:612650 |
Hemochromatosis, Type 3 |
|
Fatigue, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr... |
OMIM:604250 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Premature ovarian insufficiency, Diabetes mellitus, Abnormality of... |
OMIM:609286 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
Myotonia Fluctuans |
|
Fatigue, Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myot... |
ORPHA:99734 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Myotonia, Facial hypotonia, First degree atrioventricular block, Abdominal p... |
ORPHA:589821 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy, Exercise-induced myalgia, Percussion-induced rapid rolling muscle co... |
OMIM:600332 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Post-Traumatic Pituitary Deficiency |
|
Fatigue, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, De... |
ORPHA:95619 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio... |
OMIM:613807 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia, Hyperuricemia |
ORPHA:371 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Handgrip myotonia, Prolonged QRS complex, Decreased response to growth h... |
ORPHA:273 |
Hemochromatosis, Type 4 |
|
Fatigue, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:606069 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Paramyotonia Congenita |
|
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Myalgia |
OMIM:168300 |
Ciliary Dyskinesia, Primary, 11 |
|
Exercise intolerance, Abnormal central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:612649 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Myotonia, Ataxia, Flexion contracture, Impaired proprioception, Dys... |
OMIM:615491 |
Acetazolamide-Responsive Myotonia |
|
Myotonia, Skeletal muscle hypertrophy, Chest pain, Myalgia, Hypothyroidism |
ORPHA:99736 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Hypokalemia, Myotonia |
OMIM:170400 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Inguinal hernia, Myotonia, Shoulder flexion contracture... |
ORPHA:800 |
Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... |
OMIM:613808 |
Pituicytoma |
|
Fatigue, Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased respo... |
ORPHA:251623 |
Ciliary Dyskinesia, Primary, 22 |
|
Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Infertility, Reduced sp... |
OMIM:615444 |
Myotonia Permanens |
|
Myotonia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Chest pain, Myalgia |
ORPHA:99735 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Myotonia, Firm muscles |
OMIM:255710 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia |
OMIM:254950 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Fatig... |
ORPHA:91348 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Myotonia, Muscular dystrophy |
OMIM:158800 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Episodic Ataxia, Type 2 |
|
Episodic ataxia, Progressive cerebellar ataxia, Myotonia, Paresthesia |
OMIM:108500 |
Episodic Ataxia Type 1 |
|
Choreoathetosis, Calf muscle hypertrophy, Myotonia |
ORPHA:37612 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Ataxia, Cardiomyopathy, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Skeletal m... |
ORPHA:3101 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Exercise intolerance, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Ele... |
OMIM:613327 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Situs inversus totalis, Reduced sperm motility |
OMIM:615434 |
Hyperkalemic Periodic Paralysis |
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Myotonia, Hyperkalemia |
OMIM:170500 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Fatigue, Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Hypogon... |
ORPHA:300298 |
Aarskog-Scott Syndrome |
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Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
Ciliary Dyskinesia, Primary, 5 |
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Situs inversus totalis, Reduced sperm motility |
OMIM:608647 |
Bone Marrow Failure Syndrome 5 |
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Hypogonadism, Testicular atrophy |
OMIM:618165 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Reduc... |
OMIM:619608 |
Idiopathic Camptocormia |
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Myositis, Myotonia, Elevated circulating creatine kinase concentration, Fatty replacement of skel... |
ORPHA:1320 |
Normokalemic Periodic Paralysis |
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Percussion myotonia |
OMIM:170600 |
Thomsen And Becker Disease |
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Myotonia |
ORPHA:614 |
Coccidioidomycosis |
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Fatigue, Abnormal sperm morphology, Pericarditis, Abnormality of the endocrine system, Vasculitis... |
ORPHA:228123 |
Carney Complex |
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Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
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Inguinal hernia, Elbow contracture, Percussion myotonia, Umbilical hernia, Nemaline bodies |
OMIM:620275 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Fatigue, Hyper... |
ORPHA:91347 |
Generalized Glucocorticoid Resistance Syndrome |
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Fatigue, Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased cir... |
ORPHA:786 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Autosomal Dominant Centronuclear Myopathy |
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Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... |
ORPHA:169189 |
Stuve-Wiedemann Syndrome 1 |
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Myotonia, Impaired pain sensation, Elbow flexion contracture, Knee flexion contracture, Pulmonary... |
OMIM:601559 |
Renal Nutcracker Syndrome |
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Fatigue, Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Abdominal pain, Flank p... |
ORPHA:71273 |
Lesch-Nyhan Syndrome |
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Choreoathetosis, Testicular atrophy, Hyperuricemia |
OMIM:300322 |
Autosomal Dominant Polycystic Kidney Disease |
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Pancreatic cysts, Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertens... |
ORPHA:730 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Facial hypotonia, Handgrip myotonia, Ataxia |
ORPHA:438216 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
X-Linked Intellectual Disability, Snyder Type |
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Decreased muscle mass, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyl... |
ORPHA:3063 |
Non-Acquired Panhypopituitarism |
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Fatigue, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogona... |
ORPHA:90695 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Renal Cysts And Diabetes Syndrome |
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Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Elevated circulating creati... |
OMIM:137920 |
Myopathy, Centronuclear, 1 |
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Mildly elevated creatine kinase |
OMIM:160150 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
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Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Laryngeal dy... |
ORPHA:845 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Sandhoff Disease |
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Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |