Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Miyoshi Myopathy |
|
Tibialis muscle weakness, Tip-toe gait, Distal lower limb amyotrophy, Calf muscle hypertrophy, Tr... |
ORPHA:45448 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Tip-toe gait, Quadriceps muscle atrophy, Inability to walk, Proximal muscle weakness in lower lim... |
ORPHA:482601 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proxim... |
OMIM:158600 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... |
OMIM:146110 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Shuffling gait, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Generalized limb ... |
ORPHA:219 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Knee flexion contracture, Tip-toe gait, Spastic gait, Skeletal muscle atrophy, Difficulty walking... |
ORPHA:401785 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
46,Xy Sex Reversal 11 |
|
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... |
OMIM:273250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Gait disturbance, Foot dorsiflexor weakness, Difficulty walking, Steppage ga... |
OMIM:616280 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, Scoliosis, First dorsal int... |
OMIM:601472 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Anosmia, De... |
OMIM:614839 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Foot dorsiflexor weakness, Gait disturbance, Spinal muscular atrophy, Distal lower limb amyotrophy |
OMIM:614881 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Tip-toe gait, Spastic gait, Skeletal muscle atrophy, Difficulty walking, Thoracic scoliosis |
OMIM:615681 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
OMIM:607250 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Hyperlordosis, Centrally ... |
OMIM:617760 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Difficulty walking, Distal lower limb muscle weakness |
OMIM:615025 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Anosmia, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:614858 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Falls, Calf... |
OMIM:618848 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Scissor gait, Skeletal muscle atrophy, Decreased body weight |
ORPHA:401805 |
Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Distal amyotrophy, Unsteady gait, Spinal muscular atrophy |
OMIM:300489 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, Gait disturbance, EMG: myopathic abnormalities, ... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spinal rigidity, Loss of amb... |
OMIM:300717 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hyposmia |
OMIM:615266 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Foot dorsiflexor weakness, Distal amyotrophy, Steppage gait |
OMIM:618036 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal amyotrophy, Gait disturbance, Steppage gait |
OMIM:616625 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Neuronopathy, Distal Hereditary Motor, Type Va |
|
Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, First dorsal interossei mus... |
OMIM:600794 |
Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Inability to walk, Nemaline bodies, Steppage gait, S... |
OMIM:256030 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Anosmia,... |
OMIM:610628 |
X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, I... |
ORPHA:163976 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles, Steppage gait |
OMIM:604454 |
X-Linked Intellectual Disability, Cilliers Type |
|
Shyness, Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, ... |
ORPHA:163971 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Thenar muscle weakness, Lower limb muscle weakness, Spastic gait, Thenar muscle atrophy, First do... |
OMIM:612335 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:66628 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Tall stature, Proxima... |
ORPHA:1878 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Gait ataxia, Lower limb muscle weakness, Limb ataxia, Ataxia, Skeletal muscle atrophy, Scoliosis |
ORPHA:488594 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Back pain, Spinal rigidity, Achilles tendon contr... |
OMIM:300696 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Hyperlordosis, Flexion contracture, Kyphosis, Spi... |
OMIM:300718 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Lower limb muscle weakness, Gait disturbance, Skeletal muscle atrophy, Scoliosis |
OMIM:611225 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Hyperlordosis, Wrist drop, Centrally nucleated sk... |
OMIM:616852 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:179494 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Small pituitary gland, Delayed puberty, Anosmia, Cryptorchidism, Primary amenorrhea, Hy... |
OMIM:612702 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Incre... |
OMIM:253601 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Gait disturbance |
ORPHA:357043 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Spi... |
OMIM:619566 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Spastic gait |
OMIM:612539 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hyposmia, Decreased testicular ... |
OMIM:308700 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Wide nasal br... |
ORPHA:261534 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Knee flexion contracture, Gait disturbance, Loss of ambulation, Ankle flexion contracture, Distal... |
OMIM:615043 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... |
OMIM:300869 |
Nemaline Myopathy 4 |
|
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Kyphosco... |
OMIM:609285 |
Nemaline Myopathy 6 |
|
Gait disturbance, Nemaline bodies, Myopathy, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:609273 |
Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Flexion contracture, Skeletal muscle atrophy, Multiple joint contractures |
OMIM:614915 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... |
OMIM:614837 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle hypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Calf musc... |
ORPHA:280333 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Atrophic scars, My... |
OMIM:616471 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Difficulty walking |
OMIM:616282 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Hype... |
OMIM:253700 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
ORPHA:94124 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Distal lower l... |
OMIM:600175 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Ataxia, EMG: myopathic abnormalities, Ragged-red muscle fib... |
OMIM:500002 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Wrist flexion contracture, Wrist drop, Distal lower limb amyotrophy, Weakness of the intrinsic ha... |
OMIM:619519 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Inability t... |
ORPHA:266 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Anos... |
OMIM:614842 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Hyperlordosis, Spinal muscular atrophy, Joint contracture of the hand, Scapuloperoneal amyotrophy... |
OMIM:611067 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Ataxia |
ORPHA:1766 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Proximal amyotrophy, Distal amyotrophy, Loss of ambulation, Spinal muscular atrophy |
OMIM:182980 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Scissor gait, Gait disturbance |
OMIM:615686 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Slender build, Spinal rigidi... |
ORPHA:171439 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Flexion contracture, Skeletal muscle atrophy, Ataxia |
OMIM:611105 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Sec... |
ORPHA:432 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Calf muscle hypertrophy, Lumbar hyp... |
ORPHA:353 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98855 |
Myosclerosis, Autosomal Recessive |
|
Thoracolumbar scoliosis, Spinal rigidity, Lumbar hyperlordosis, Achilles tendon contracture, Neck... |
OMIM:255600 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Lower limb amyotrophy, Hand muscle atrophy |
OMIM:615658 |
Spinal Muscular Atrophy, Jokela Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy, Difficulty walking, Calf muscle hypertrophy |
OMIM:615048 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Anosmia, Cryptorchidism, Mi... |
OMIM:614880 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Congenital contracture, Type 1 muscle fiber predo... |
OMIM:605637 |
Autosomal Spastic Paraplegia Type 30 |
|
Spastic gait, Ataxia, Scissor gait, Leg muscle stiffness, Distal amyotrophy, Unsteady gait |
ORPHA:101010 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Spastic gait |
OMIM:610250 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Delayed puberty, Anosmia, Hypogonadism |
OMIM:615270 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Limb-girdle muscular dystrophy, Unstead... |
OMIM:612937 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism |
OMIM:612370 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Decreased testicular size, Bifid nose, Anosmia, Hypogonadotropic hypogonadism, Micropenis |
OMIM:614838 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... |
OMIM:620068 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Anosmia, Hypogonadism |
OMIM:615267 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Primary amenorrhea, Hyposmia, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis |
OMIM:244200 |
Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... |
OMIM:602771 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Knee flexion contracture, Spastic gait, Flexion contracture of finger, Difficulty walking, Ankle ... |
ORPHA:320370 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Abnormality of body weight, Delayed puberty, Decreased serum insulin-like ... |
ORPHA:314811 |
Rigid Spine Syndrome |
|
Hyperlordosis, Hip contracture, Spinal rigidity, Elbow flexion contracture, Myopathy, Skeletal mu... |
ORPHA:97244 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Distal amyotrophy, Limb ataxia, Ataxia |
OMIM:617018 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Ataxia, Kyphoscoliosis, Distal lower lim... |
ORPHA:459033 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Kyphosis, Calf muscle hypertrophy, Internally nuc... |
OMIM:618138 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... |
ORPHA:231720 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Tip-toe gait, Amyotrophy of an... |
OMIM:160500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle weak... |
OMIM:607088 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia |
OMIM:613752 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb amyotrophy |
OMIM:617046 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... |
OMIM:614840 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Thenar muscle weakness, Thenar muscle atrophy, Distal lower limb muscle weakness, First dorsal in... |
ORPHA:139536 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Flexion contracture, Lower limb muscle weakness, Hand muscle atrophy, Increased connective tissue... |
OMIM:607684 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Distal lower limb amyotrophy, Gait disturbance, Distal upper limb amyotrophy, ... |
ORPHA:101077 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... |
OMIM:181400 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... |
OMIM:617114 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Distal amyotrophy, Calf muscle hypertrophy |
OMIM:618135 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Tip-toe gait, Increased adipose tissue, Kyphosis, Spinal rigidity, Gait disturbanc... |
OMIM:617404 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Kyphosis, Ataxia, Waddling gait, Scoliosis, Obesity, Broad-based gait, Lumbar ... |
OMIM:616756 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Obesity, Distal lo... |
ORPHA:171706 |
Spinal Muscular Atrophy, Type Iii |
|
Spinal muscular atrophy, Lower limb muscle weakness, Proximal lower limb amyotrophy, Pelvic girdl... |
OMIM:253400 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Spinal muscular atrophy, Lower limb muscle weakness, Triceps weakness, Weakness of the intrinsic ... |
OMIM:615575 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Waddl... |
OMIM:609524 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dysdiadochokinesis, Inguinal hernia, Dysmetria, Thenar muscle atrophy... |
OMIM:619903 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Leg muscle stiffness, Distal amyotrophy, Lower limb muscle weakness, Ataxia |
ORPHA:100985 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia |
OMIM:246700 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Tip-toe g... |
ORPHA:267 |
Gemignani Syndrome |
|
Skeletal muscle atrophy, Ataxia |
ORPHA:2074 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Lower limb mu... |
OMIM:300695 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Delayed puberty, Anosmia, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogona... |
OMIM:147950 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Proximal amyotrophy, Distal amyotrophy, Foot dorsiflexor weakness, Waddling gait |
OMIM:616040 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of... |
ORPHA:1135 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Spinocerebellar Ataxia Type 43 |
|
Gait ataxia, Limb ataxia, Foot dorsiflexor weakness, Distal lower limb muscle weakness, Distal am... |
ORPHA:497764 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Lower limb muscle weakness, Muscul... |
OMIM:254130 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Shoulder girdle muscle atrophy, Difficulty walking, Steppage gait, Scapul... |
ORPHA:437572 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Steppage gait |
OMIM:302801 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal amyotrophy, Difficulty walking |
OMIM:158580 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... |
OMIM:267700 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Generalized amyotrophy, Lumbar hyperlordosis, Shoulder girdle muscle weakness, Gait di... |
OMIM:167320 |
Roussy-Lévy Syndrome |
|
Gait ataxia, Lower limb muscle weakness, Limb ataxia, Kyphoscoliosis, Intrinsic hand muscle atrop... |
ORPHA:3115 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, EMG: myopathic abnormalities, Increased intramuscular fat, R... |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Distal amyotrophy, Upper limb muscle weakness, Steppage gait |
OMIM:607677 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance |
ORPHA:436141 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Tip-toe gait, Hip contracture, Lower limb muscle weaknes... |
OMIM:615290 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Gait disturbance, Ataxia, Skeletal muscle atrophy, Scoliosis |
ORPHA:101078 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Hypogonadism, Hyposmia |
OMIM:615996 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Foot dorsiflexor weakness, Distal amyotrophy, Steppage gait |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Steppage gait |
OMIM:607678 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism, Short nose, Depressed nasal bridge, Anosmia, Short nasal septum |
OMIM:302950 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Falls, Centrally nucleated skeletal muscle fibers, EMG: myopathic abnormalities, Type 1 muscle fi... |
OMIM:608358 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Ataxia, Type 1 muscle fiber predominance, Failure to thrive, Skeletal muscle a... |
OMIM:618276 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism, Hyposmia |
OMIM:613724 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Loss of ambulation, Calf muscle pseudohypertroph... |
OMIM:604286 |
Myopathy, spheroid body |
|
Myopathy, Skeletal muscle atrophy, Proximal amyotrophy, Broad-based gait, Waddling gait |
OMIM:182920 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Fatty replacement of skeletal muscle, Tip-toe gait, Congenital muscular dystrophy, Achilles tendo... |
ORPHA:370980 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Distal Myotilinopathy |
|
Loss of ability to walk in first decade, Multiple joint contractures, Abnormal muscle fiber myoti... |
ORPHA:98911 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:208920 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Ataxia, Loss of ambulation, Foot dorsiflexor weakness, Scoliosis, Unsteady gait, Obesity |
OMIM:618124 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Scoliosis |
OMIM:608673 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Lethargy, Skeletal muscle atrophy, Difficulty walking |
OMIM:613710 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Gait ataxia, Lower limb muscle weakness, Ataxia, Dysmetria, Skeletal muscle atrophy, Difficulty w... |
OMIM:616907 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Ataxia, Hypercholesterolemia |
OMIM:616267 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... |
OMIM:278850 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone le... |
ORPHA:90795 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Impotence, Absence ... |
ORPHA:2232 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Kyphoscoliosis, Spinal muscular atrophy |
OMIM:271200 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Distal amyotroph... |
OMIM:607641 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Distal amyotrophy, Scoliosis, Steppage gait |
OMIM:615376 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Facial diplegia, Skeletal muscle atrophy, Scoliosis, Distal amyotrophy |
OMIM:618184 |
Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... |
ORPHA:488650 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Progressive cerebellar ataxia, Generalized amyotrophy |
ORPHA:2589 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Gait disturbance |
OMIM:615683 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atrophy |
ORPHA:238329 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Myopathy, Frontalis m... |
OMIM:300580 |
Muscular Dystrophy, Congenital, 1B |
|
Spinal rigidity, Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle h... |
OMIM:604801 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Multiminicore Myopathy |
|
Spinal rigidity, Abnormal muscle fiber morphology, Congenital muscular dystrophy, Failure to thri... |
ORPHA:598 |
Merrf |
|
Multiple lipomas, Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Myopathy, Centronuclear, 1 |
|
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper li... |
OMIM:160150 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El... |
ORPHA:64753 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Generalized amyotrophy, Spinal rigidity, Congenital muscular dystrophy, Achilles... |
OMIM:613205 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spinal muscular atrophy, Ataxia, Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:617207 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Loss of ... |
OMIM:616516 |
Bethlem Myopathy 1 |
|
Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo... |
OMIM:158810 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Hyperlordosis, Flexion contracture, Spinal rigidity, Cachexia, Gait disturbance, Myopathy, Skelet... |
ORPHA:157973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Calf muscle hypertrophy, Congenital musc... |
OMIM:606612 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Diabetes... |
OMIM:614963 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis, Ataxia |
OMIM:619099 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Distal lower limb m... |
OMIM:619216 |
Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Calf muscle hypertrophy, Gait disturbance, Kyphoscoliosis, Skeletal muscle atrophy |
ORPHA:101081 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Enamel hypoplasia, Inability to walk... |
OMIM:617915 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Kyphosis, Generalized amyotrophy, Spinal rigidity, Myopathy, Scoliosis |
OMIM:618323 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Multiple lipomas, Skeletal muscle atrophy |
ORPHA:3294 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Falls, Hand muscle atrophy, Weakness of facial musculature, Failure to thrive, Foot dorsiflexor w... |
OMIM:618811 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Kyph... |
OMIM:254090 |
Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Steppage gait, D... |
OMIM:610099 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Distal amyotrophy, Upper limb muscle weakness, Difficulty walking, Hand muscle weakness |
OMIM:608323 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Gait ataxia, Loss of ambulation, Intrinsic hand muscle atrophy, Difficulty walking, Steppage gait... |
OMIM:614895 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Myopathy And Diabetes Mellitus |
|
Tip-toe gait, Skeletal myopathy, Inability to walk, Distal lower limb amyotrophy, Weakness of orb... |
ORPHA:2596 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Hyperlordosis, Calf muscle hypertrophy, Muscular ... |
OMIM:613157 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Knee flexion contracture, Upper limb amyotrophy, Tip-toe gait, Kyphoscoliosis, Proximal muscle we... |
ORPHA:496689 |
Polyembryoma |
|
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... |
ORPHA:180229 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Distal amyotrophy, Cachexia, Nonprogressive muscular atrophy |
ORPHA:1216 |
Gordon Holmes Syndrome |
|
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... |
OMIM:212840 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Loss of ambulation, Ske... |
ORPHA:352479 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Dysmetria, Skeletal muscle atrophy, Limb muscle weak... |
OMIM:607458 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... |
OMIM:310440 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertrophy, Reduced muscle fiber ... |
ORPHA:206559 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Flexion contracture, Skeletal muscle atrophy, Spastic gait |
OMIM:613162 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Foot dorsiflexor weakness, Scoliosis, Steppage gait, Distal amyotrophy, Upper limb muscle weakness |
OMIM:302802 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Progressive intervertebral space narrowing, Ataxia, Ragged-red muscle fi... |
ORPHA:480 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Upper limb muscle we... |
OMIM:605588 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... |
OMIM:603553 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Spinal rigid... |
OMIM:608423 |
Distal Anoctaminopathy |
|
Peroneal muscle atrophy, Rhabdomyolysis, Calf muscle pseudohypertrophy, Difficulty walking, Proxi... |
ORPHA:399096 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Tip-toe gait, Lower limb muscle weakness, Spastic gait, Ataxia, Thenar muscle atrophy, Skeletal m... |
OMIM:604360 |
Cap Myopathy |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Generalized amyotrophy, Lower limb ... |
ORPHA:171881 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Kallmann Syndrome |
|
Decreased fertility, Hyposmia, Anterior hypopituitarism, Decreased testicular size, Hypothalamic ... |
ORPHA:478 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Scoliosis |
OMIM:618244 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Failure to thrive, Joint contracture, Spinal muscular atrophy |
OMIM:616081 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Spastic Paraplegia 2, X-Linked |
|
Flexion contracture, Lower limb muscle weakness, Spastic gait, Dysmetria, Loss of ambulation, Ske... |
OMIM:312920 |
Fried Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Scoliosis |
ORPHA:85335 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Gait imbalance, Spastic gait |
ORPHA:247604 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Prominent nose, Decreased serum estra... |
ORPHA:3464 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Spondylolisthesis, Myopathy, Rimmed vacuoles, Ragged-red muscle... |
ORPHA:270 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... |
ORPHA:465508 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... |
ORPHA:97240 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Generalized amyotrophy, Difficulty walking, Spastic gait |
ORPHA:401820 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Foot dorsiflexor weakness, Lower limb musc... |
OMIM:613287 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Spinal muscular atrophy, Skeletal muscle atrophy, Difficulty... |
OMIM:159950 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, Steppage gait, EMG: myopathic abnormalities |
OMIM:600334 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617069 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... |
ORPHA:398079 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Generalized amyotrophy, Choreoathetosis, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy... |
OMIM:617519 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
ORPHA:171436 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Left ventricular hypertrophy, Gait disturbance, Hypomimic face, Dysmetria, Sco... |
ORPHA:93952 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Lower limb muscle weakness, Gait disturbance, Loss of ambulation, Skeletal muscle atrophy, Scolio... |
OMIM:615284 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Foot dorsiflexor weakness, Steppage gait, Scoliosis, Distal amyotrophy, Limb muscle weakness |
OMIM:608340 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Bradykinesia, Skeletal muscle atrophy, Ataxia |
OMIM:183050 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lower limb muscle weakness, Muscular dystrophy, Lipodystrophy, Myopathy, Skeletal muscle atrophy,... |
OMIM:615980 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Skeletal muscle atrophy, Scoliosis, Bradykinesia |
OMIM:500001 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Failure to thrive, Dysmetria, Skeletal muscle atrophy |
OMIM:618251 |
Duchenne And Becker Muscular Dystrophy |
|
Hyperlordosis, Gait disturbance, Myopathy, Skeletal muscle atrophy, Scoliosis |
ORPHA:262 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Hyperlordos... |
OMIM:181405 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia |
ORPHA:79320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Lumbar hyperlordosis |
OMIM:613723 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Tip-toe gait, Gait imbalance, Hand muscle atrophy, Gait disturbance, Difficulty walking, Steppage... |
ORPHA:435387 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Scoliosis, Generalized amyotrophy |
OMIM:616540 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Foot dorsiflexor weakness, Distal amyotrophy, Claw hand deformity, Spinal muscular atrophy |
OMIM:605726 |
Aarskog-Scott Syndrome |
|
Wide nasal bridge, Shawl scrotum, Bilateral cryptorchidism, Short nose, Testicular atrophy, Delay... |
OMIM:305400 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Difficulty walking, Proximal amyotrophy, Scapular wi... |
OMIM:601287 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Duchenne Muscular Dystrophy |
|
Flexion contracture, Calf muscle hypertrophy, Skeletal muscle atrophy, Scoliosis, Waddling gait |
ORPHA:98896 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Scoliosis, Ataxia |
ORPHA:1188 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Falls, Generalized amyotrophy, Gait disturbance, Pelvic girdle muscle weakness, My... |
OMIM:615156 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism, Wide nasal bridge |
ORPHA:2229 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Gait ataxia, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized am... |
OMIM:258450 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Marinesco-Sjogren Syndrome |
|
Gait ataxia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosis, Limb atax... |
OMIM:248800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Kyphosis, Facial diplegia, Short neck, Skeletal muscle atrophy, Difficulty wal... |
OMIM:611890 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Neonatal death, Failure to thrive |
OMIM:614096 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Akinesia, Nemaline bodies, Neonatal death, Arthro... |
OMIM:619334 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Thenar muscle atrophy, Foot dorsiflexor weakness, Difficulty walking, Steppage gait, Distal amyot... |
OMIM:606483 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Bifid scrotum, Hypoplasia of penis, Short nose, Anosmia, Hypogonadot... |
ORPHA:1295 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Gait ataxia, Amyotrophy of ankle musculature, Upper limb amyotrophy, Distal lower limb amyotrophy... |
ORPHA:90103 |
Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Ataxia, Skeletal muscle atrophy, Scoliosis, Platy... |
OMIM:230650 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Ataxia, Abnormality of the musculature of the lower limbs, Difficulty walking, Scoliosi... |
ORPHA:464282 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Kyphoscoliosis, Skeletal muscle atrophy, Difficulty walking, Ataxia |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Limb muscle weakness, Facial palsy |
OMIM:118210 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hernia, Atrophic scars, Disproportionate tall stature, Kyphoscoliosis, Myopathy, Skeletal muscle ... |
ORPHA:300179 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Distal amyotrophy, Hyperlordosis, Broad-based gait, Arthrogryposis multiplex congenita |
OMIM:162370 |
Nemaline Myopathy 10 |
|
Flexion contracture, Fatty replacement of skeletal muscle, Facial palsy, Nemaline bodies, Skeleta... |
OMIM:616165 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Flexion contracture, Foot dorsiflexor weakness, Steppage gait, Scoliosis, Distal amyotrophy, Limb... |
OMIM:609260 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormality of the foot musculature, Spastic gait, Hand muscle atrophy, Foot dorsiflexor weakness... |
ORPHA:100998 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Decreased cervi... |
OMIM:310300 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Wide nasal bridge, Cryptorchidism |
ORPHA:377 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Premature ovarian insufficiency, Neoplasm of the pancreas, Delayed pub... |
ORPHA:2959 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Toe extensor amyotrophy, Peroneal muscle atrophy, Inability to walk, Hand muscle atrophy, Proxima... |
ORPHA:98856 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy, Limb... |
OMIM:618387 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Gait disturbance, Scoliosis, Kyphosis, Truncal obesity |
ORPHA:2429 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Delayed puberty, Hyposmia |
OMIM:615271 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Facial palsy, Lumbar ... |
ORPHA:353327 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Scoliosis, Kyphosis |
ORPHA:276630 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Camptodactyly, Short neck, Skeletal muscle atrophy, Neonatal death, Arthrogryposis mult... |
OMIM:618393 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyot... |
OMIM:255200 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Camurati-Engelmann Disease, Type 2 |
|
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Disproportionate tall stature... |
OMIM:606631 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb muscle weakness, Spastic gait, Ataxia, Dysmetria, Lower limb amyotrophy |
OMIM:610357 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Impaired tandem gait, Loss of ambul... |
ORPHA:101097 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Inability to walk, Type 1 fibers relatively smaller t... |
ORPHA:596 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hyperlordosis, Enamel hypoplasia, Irregular vertebral endplates, Hip contracture, Inguinal hernia... |
OMIM:618363 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Wide nose, Cleft ala nasi, Decreased testicular size, Narrow nasal base, Type I diabetes mellitus... |
ORPHA:3044 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Shox-Related Short Stature |
|
Obesity, Short neck, Scoliosis, Skeletal muscle hypertrophy |
ORPHA:314795 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Non-Functioning Pituitary Adenoma |
|