Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Miyoshi Myopathy |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... |
ORPHA:45448 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... |
ORPHA:482601 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Steppage ... |
OMIM:617158 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... |
ORPHA:219 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... |
OMIM:618655 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Spastic gait, Knee flexion contracture, Tip-toe gait, Thoracic scoliosis... |
ORPHA:401785 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Increased connective tis... |
OMIM:601954 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... |
OMIM:273250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:601472 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Spinal muscular atrophy, Foot dorsiflexor weakness, Gait disturbance, Skeletal muscle atrophy |
OMIM:614881 |
Neuronopathy, Distal Hereditary Motor, Type Iic |
|
Skeletal muscle atrophy, Steppage gait, Distal lower limb muscle weakness, Lower limb muscle weak... |
OMIM:613376 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy, Spastic gait, Tip-toe gait, Thoracic scoliosis, Difficulty walking |
OMIM:615681 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:616030 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Pituicytoma |
|
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... |
ORPHA:251623 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... |
OMIM:618848 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Difficulty walking |
OMIM:615025 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Distal amy... |
OMIM:619042 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... |
ORPHA:178464 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Decreased body weight, Skeletal muscle atrophy, Scissor gait |
ORPHA:401805 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Hyperlordosis, Calf muscle hypertrophy, ... |
OMIM:617760 |
Nonaka Myopathy |
|
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... |
OMIM:605820 |
Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Unsteady gait, Spinal muscular atrophy, Distal amyotrophy |
OMIM:300489 |
Nemaline Myopathy 2 |
|
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... |
OMIM:256030 |
Polyglucosan Body Myopathy 2 |
|
Difficulty walking, Skeletal muscle atrophy, Limb-girdle muscle weakness |
OMIM:616199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... |
OMIM:608099 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Impaired social interactions, Absence of secondary sex characteristics... |
ORPHA:163976 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypospadias, Shyness, Prominent nasal bridge, Absence of secondary sex characteristics, Increased... |
ORPHA:163971 |
Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:600794 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Anosmia, Decreased testicular size, ... |
OMIM:614897 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy |
OMIM:271220 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Tall stature, Waddling gait,... |
ORPHA:1878 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Steppage gait, Gait disturbance, Distal amyotrophy |
OMIM:616625 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea |
OMIM:614839 |
Welander Distal Myopathy |
|
Steppage gait, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchid... |
OMIM:612702 |
Spastic Paraplegia 38, Autosomal Dominant |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Spastic gait, Thenar muscle atrop... |
OMIM:612335 |
Spastic Paraplegia 17, Autosomal Dominant |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Spastic gait, Thenar muscle atrop... |
OMIM:270685 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness |
OMIM:611225 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... |
OMIM:610628 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... |
OMIM:611369 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Hyposmia |
OMIM:615996 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Ataxia, Scoliosis, Limb ataxia, Gait ataxia, Lower limb muscle weakness |
ORPHA:488594 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Gait disturbance, Knee flexion contracture, Distal amyotrophy |
OMIM:615043 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia, Skeletal muscle atrophy |
OMIM:158500 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Difficulty walking |
OMIM:616282 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Gait disturbance, Skeletal muscle atrophy, Scissor gait |
OMIM:615686 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Hyperlordosis, Increased variability in muscle fiber diameter, Flexion... |
OMIM:300718 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Hypogonadism, Bulbous nose, Cryptorchidism, Decreased t... |
OMIM:300869 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the uterus |
OMIM:614842 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic gait, Skeletal muscle atrophy |
OMIM:612539 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Gait disturbance, Skeletal muscle atrophy |
ORPHA:357043 |
Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... |
OMIM:609285 |
Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture |
OMIM:614915 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche |
OMIM:145295 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Gait disturbance, Myopathy, Back pain, Hyperlordosis, Scapular winging, Musc... |
OMIM:618129 |
Bethlem Myopathy 2 |
|
Myopathy, Atrophic scars, Kyphosis, Increased variability in muscle fiber diameter, Flexion contr... |
OMIM:616471 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Myopathy, Skeletal muscle atrophy, Steppage gait, Waddling gait, Flexion contracture, Scapular wi... |
OMIM:300695 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, Limb-girdle mu... |
ORPHA:280333 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
Distal Myopathy, Welander Type |
|
Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuo... |
ORPHA:603 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Dystonia, Progressive distal muscular atrophy, Kyphoscoliosis, Distal lower limb muscle weakness,... |
ORPHA:459033 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... |
OMIM:619519 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Dystonia, Skeletal muscle atrophy, Scoliosis |
OMIM:618244 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ataxia... |
OMIM:500002 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Wide nasal bridge, Increased circulating gonadotropin level, Micrope... |
ORPHA:261534 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scapuloperoneal amyotrophy, Joint contracture of the hand, Waddling gait, Hyperlordosis, Distal a... |
OMIM:611067 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... |
OMIM:600175 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Depressed nasal bridge, Azoospermia, Hypogonadotro... |
ORPHA:432 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Shoulder girdle muscle atrophy, Generalized amyotrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Thoracolumbar scoliosis, Facial palsy, Spin... |
OMIM:255600 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Anosmia, Hyposmia |
OMIM:615267 |
Dysequilibrium Syndrome |
|
Ataxia, Gait disturbance, Skeletal muscle atrophy |
ORPHA:1766 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Skeletal muscle atrophy, Flexion contracture |
OMIM:611105 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... |
OMIM:612937 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Anosmia, Decreased testicular size, Hyposmia |
OMIM:614838 |
Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of ability to w... |
ORPHA:34516 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism |
OMIM:612370 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Failure to thrive in infancy, Increased intramyocellular lipid droplets, Ataxia, Increa... |
OMIM:619065 |
Spinal Muscular Atrophy, Jokela Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy, Difficulty walking, Calf muscle hypertrophy |
OMIM:615048 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Kyphosis, P... |
OMIM:618138 |
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Anosmia, Depressed nasal bridge |
OMIM:113480 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Difficulty walking, Increased... |
ORPHA:399058 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:608323 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Waddling gait, Increa... |
OMIM:616924 |
Autosomal Spastic Paraplegia Type 30 |
|
Scissor gait, Spastic gait, Leg muscle stiffness, Ataxia, Distal amyotrophy, Unsteady gait |
ORPHA:101010 |
Rigid Spine Syndrome |
|
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Spinal rigidity, Wadd... |
ORPHA:97244 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased serum insulin-like growth factor 1, Decreased... |
ORPHA:314811 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Spastic gait, Knee flexion contracture, Distal amyotrophy, Flexion con... |
ORPHA:320370 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Bethlem Myopathy 1 |
|
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... |
OMIM:158810 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Interosseus muscle atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, ... |
OMIM:607088 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Bradykinesia, Difficulty ... |
ORPHA:171442 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... |
OMIM:614840 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb amyotrophy |
OMIM:617046 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Skeletal muscle atrophy, Scoliosis |
OMIM:618184 |
Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... |
ORPHA:139536 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Anosmia |
OMIM:244200 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Kyphosis, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Obesity, Scoliosi... |
OMIM:616756 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Hand muscle weakness, Distal upper lim... |
ORPHA:101077 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98853 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Gait ataxia, Distal amyotrophy |
OMIM:617018 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Unsteady gait, Obesity, Foot dorsiflexor weakness, Scoliosis |
OMIM:618124 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... |
ORPHA:267 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Skeletal muscle atrophy, Failure to thrive, Ataxia, Inability to walk |
OMIM:618276 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Myofibrillar ... |
OMIM:609524 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea |
OMIM:212840 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Spinocerebellar Ataxia Type 43 |
|
Progressive cerebellar ataxia, Distal amyotrophy, Unsteady gait, Distal lower limb muscle weaknes... |
ORPHA:497764 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... |
ORPHA:231720 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Triceps weakness, Weakness of the intrinsic hand muscles, Difficulty walking, Spinal muscular atr... |
OMIM:615575 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Waddling gai... |
ORPHA:363454 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Steppage gait, Facial palsy, Nemaline bodies, Increased connective tissue, Flexion contracture, D... |
OMIM:607684 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Obesity, Distal lower limb muscle weakness, Fatty replac... |
ORPHA:171706 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia |
OMIM:302950 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Gemignani Syndrome |
|
Ataxia, Skeletal muscle atrophy |
ORPHA:2074 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Spastic gait, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:610250 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness, Scoliosis |
ORPHA:496756 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis |
OMIM:618323 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Failure to thrive, Generalized amyotrophy, Congenital muscular dystrophy, Spinal rigidity, Flexio... |
OMIM:613205 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... |
ORPHA:437572 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... |
OMIM:254130 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Distal amyotrophy |
OMIM:158580 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Hypogonadotropic hypogo... |
ORPHA:1135 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Dystonia, Gait disturbance, Skeletal muscle atrophy, Ataxia, Scoliosis |
OMIM:618239 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Ataxia, Distal amyotrophy, Lower limb muscle weakness, Leg muscle stiffness |
ORPHA:100985 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity, Skeletal muscle atrophy |
OMIM:613402 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration |
OMIM:201100 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Failure to thrive, Torticollis, Slender build, Generalized amyotrophy... |
OMIM:254090 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... |
ORPHA:276435 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Proximal amyotrophy, Foot dorsiflexor weakness, Waddling gait, Distal amyotrophy |
OMIM:616040 |
Neuronopathy, Distal Hereditary Motor, Type I |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:182960 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Upper limb muscle weakness, Distal amyotrophy |
OMIM:607677 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... |
ORPHA:496689 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Recurrent upp... |
ORPHA:99330 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... |
ORPHA:99429 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Achilles tendon contracture, Knee flexion contracture, Waddling gait, Tip-toe ga... |
OMIM:615290 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Steppage gait, Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:607731 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Sc... |
OMIM:616228 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:146110 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Scoliosis, Distal amyotro... |
ORPHA:3115 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Myopathy, Spheroid Body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Waddling gait, Broad-based gait |
OMIM:182920 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Steppage gait, Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy |
OMIM:607678 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... |
ORPHA:488650 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Ataxia, Scoliosis |
ORPHA:101078 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis, EMG: myopathic... |
ORPHA:370980 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Dystonia, Limb muscle weakness, Should... |
OMIM:167320 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint c... |
ORPHA:98911 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Gait disturbance, Ragged-red muscle fibers, Facial palsy, Rimmed vacuole... |
OMIM:160500 |
Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... |
OMIM:614065 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance |
ORPHA:436141 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... |
OMIM:300580 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Scoliosis, Distal amyotrophy |
OMIM:608673 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... |
OMIM:602771 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... |
ORPHA:90795 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Contractures of the joints of the lower limbs, Skeletal muscle atrophy, Difficulty walking, Lethargy |
OMIM:613710 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... |
OMIM:604801 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis |
OMIM:271200 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Choanal atresia, Cryptorchidism, A... |
OMIM:147950 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... |
ORPHA:453533 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Rimmed vacuoles, Spinal rigidity, Flexion contracture, Scapular winging, Short neck |
OMIM:300696 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Leptin Receptor Deficiency |
|
Polyphagia, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Abnormal eating behavior,... |
OMIM:614963 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... |
ORPHA:2232 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased connective tissue, Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Facial palsy, Distal amyotrophy, Lower limb muscle weakness, Hand muscle at... |
OMIM:607641 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Generalized amyotrophy, Scoliosis |
OMIM:616540 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Upper limb amyotrophy, Calf muscle hypoplasia, Distal lower limb am... |
ORPHA:90103 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness, Scoliosis |
OMIM:617207 |
Merrf |
|
Ataxia, Myopathy, Ragged-red muscle fibers, Multiple lipomas |
ORPHA:551 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Coronal cleft vertebrae, Irregular vertebral endplates, Abnormal vertebral morph... |
OMIM:618363 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Dysmetria, Ataxia, Scoliosis, Gait ataxia, Lower limb muscle weakness, D... |
OMIM:616907 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Distal upper limb amyotrophy, Kyphosis, Distal lower limb amyotrophy, Ataxia, S... |
ORPHA:101075 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Ataxia, Kyphoscoliosis, Distal amyotrophy |
OMIM:619099 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Gait disturbance, Skeletal muscle atrophy |
OMIM:615683 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia, Myopathy, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Fl... |
ORPHA:157973 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger, Multiple lipomas |
ORPHA:3294 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... |
OMIM:619216 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Pontocerebellar Hypoplasia, Type 1C |
|
Failure to thrive, Spinal muscular atrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616081 |
Myopathy, Distal, 3 |
|
Steppage gait, Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Musc... |
OMIM:610099 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, Steppage gait, EMG: myopathic abnormalities, Joint contra... |
ORPHA:399086 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Gait disturbance, Slender build, Facial palsy, Generalized amyotrophy, Limb-girdle muscle weakness |
OMIM:615156 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait disturbance, Skeletal muscle atrophy, Gait imbalance, Kyphoscoliosis, Calf muscle hypertrophy |
ORPHA:101081 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Skeletal muscle atrophy, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar... |
OMIM:230650 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Generalized amyotrophy, Progressive gait ataxia |
ORPHA:2589 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Nonprogressive muscular atrophy, Distal amyotrophy |
ORPHA:1216 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Distal amyotrophy |
OMIM:618438 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... |
OMIM:606612 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Weakness of facial musculature, Failure to thrive, Falls, Distal amyotrophy, Foot dorsiflexor wea... |
OMIM:618811 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... |
ORPHA:34515 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... |
ORPHA:157954 |
Polyembryoma |
|
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... |
ORPHA:180229 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Loss of ambulatio... |
ORPHA:352479 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Gait disturbance, Myopathy, Minicore myopathy, Failure to thrive, EM... |
ORPHA:424107 |
Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... |
ORPHA:95512 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fibe... |
OMIM:616470 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Skeletal muscle atrophy, Kyphoscoliosis, Ataxia, Difficulty walking |
OMIM:616684 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... |
OMIM:400044 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Wide nasal bridge, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin ... |
ORPHA:324575 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... |
ORPHA:95513 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
Typical Nemaline Myopathy |
|
Gait disturbance, Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ky... |
ORPHA:171436 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Scoliosis |
OMIM:302802 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Progressive gait ataxia, Dysdiadochokin... |
OMIM:607458 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Steppage gait, Kyphoscoliosis, Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor we... |
OMIM:605588 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diamete... |
OMIM:619334 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Skeletal muscle atrophy, Facial diplegia, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:611890 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Inabili... |
ORPHA:206559 |
Woodhouse-Sakati Syndrome |
|
Prominent nose, Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tu... |
ORPHA:3464 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Lumbar hyperlordosis, Tip... |
ORPHA:171881 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
Kallmann Syndrome |
|
Abnormal morphology of female internal genitalia, Hyposmia, Hypogonadotropic hypogonadism, Erecti... |
ORPHA:478 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Spondyloli... |
ORPHA:270 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy |
OMIM:182980 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, Achilles tendon contract... |
OMIM:181350 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... |
ORPHA:465508 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... |
OMIM:241080 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Spinal rigidity, Increased endomysial connective t... |
OMIM:617072 |
Juvenile Primary Lateral Sclerosis |
|
Spastic gait, Skeletal muscle atrophy, Gait imbalance |
ORPHA:247604 |
Fried Syndrome |
|
Gait disturbance, Skeletal muscle atrophy, Scoliosis |
ORPHA:85335 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... |
ORPHA:98905 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Increased variab... |
ORPHA:119 |
Tibial Muscular Dystrophy, Tardive |
|
Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Dystonia, Ataxia, Increased variability in muscle fiber di... |
ORPHA:401768 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Limb muscle weakness, Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Scoliosis |
OMIM:608340 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Spastic gait, Ataxia, Tip-toe gait, Thenar muscle atrophy, Obesity, Lowe... |
OMIM:604360 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Myopathy, Waddling gait, Muscle fiber inclusion bodies, Scapular winging, Scoliosis, Congenital c... |
OMIM:605637 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... |
OMIM:604286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
Kearns-Sayre Syndrome |
|
Ataxia, Progressive intervertebral space narrowing, Ragged-red muscle fibers, Skeletal muscle atr... |
ORPHA:480 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Recurr... |
ORPHA:263458 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Dysmetria, Left ventricular hypertrophy, Hypomimic face, Inability to walk, Uns... |
ORPHA:93952 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Waddling gait, Calf muscle hypertrophy, Flexion contracture, Scoliosis |
ORPHA:98896 |
Myopathy, Centronuclear, 2 |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Kyphosis, W... |
OMIM:255200 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Axial dystonia, Increased variability in muscle fiber diameter, Fle... |
OMIM:619026 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... |
ORPHA:325124 |
Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Hand muscle atrophy |
OMIM:183020 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Proximal amyotrophy, Muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Difficulty wa... |
OMIM:601287 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Bethlem Myopathy |
|
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... |
ORPHA:610 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased connective tissue, Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Campt... |
OMIM:618393 |
Duchenne And Becker Muscular Dystrophy |
|
Gait disturbance, Myopathy, Skeletal muscle atrophy, Hyperlordosis, Scoliosis |
ORPHA:262 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Premature adren... |
ORPHA:398079 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Spastic gait, Generalized amyotrophy, Difficulty walking |
ORPHA:401820 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Difficulty walking, Scoliosis, Limb muscle weakness |
OMIM:614895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Ataxia, Flexion ... |
OMIM:248800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Steppage gait, Generalized amyotrophy, Facial palsy, EMG: myopathic abn... |
OMIM:258450 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Distal upper limb amyotrophy, Joint contracture of the hand, Broad-based gait, Distal amyotrophy,... |
OMIM:258650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... |
OMIM:253700 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Unsteady gait, Obesity, Ataxia |
OMIM:614947 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Skeletal muscle atrophy, Scoliosis |
ORPHA:1188 |
Siddiqi Syndrome |
|
Lower limb amyotrophy, Flexion contracture, Limb dystonia |
OMIM:618635 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:618400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Disproportionate tall stature, Myopathy, Skeletal muscle atrophy, Kyphoscoliosis, Atrophic scars,... |
ORPHA:300179 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Dis... |
OMIM:617519 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Failure to thrive, Dysmetria, Skeletal muscle atrophy |
OMIM:618251 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Abnormality of the vertebral column, Proximal muscle weakness in lower limbs, Hand muscle weaknes... |
ORPHA:101097 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Waddling gait, Calf muscle pseudohypertrophy, Distal amy... |
ORPHA:399096 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Gait imbalance, Steppage gait, Quadric... |
ORPHA:435387 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short nose, Anosmia, Abnormali... |
ORPHA:1295 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy, Limb muscle weakness |
OMIM:118210 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal amyotrophy, Toe extensor amyotrophy, Peroneal muscle atrophy, Proximal muscle weakness i... |
ORPHA:98856 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Decreased serum estra... |
ORPHA:2959 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short nose, Elevated... |
OMIM:305400 |
Myasthenic Syndrome, Congenital, 10 |
|
Proximal amyotrophy, Waddling gait, Facial palsy, Distal amyotrophy |
OMIM:254300 |
Hereditary Motor And Sensory Neuropathy V |
|
Foot dorsiflexor weakness, Distal amyotrophy, Difficulty walking, Limb muscle weakness |
OMIM:600361 |
Camurati-Engelmann Disease, Type 2 |
|
Disproportionate tall stature, Skeletal muscle atrophy, Hip contracture, Knee flexion contracture... |
OMIM:606631 |
Myopathy, Myofibrillar, 6 |
|
Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion contracture, Mus... |
OMIM:612954 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle weakness, Spastic gait, Abnormality of the foot musculature, Distal amyotrophy, Foot ... |
ORPHA:100998 |
Developmental And Epileptic Encephalopathy 86 |
|
Dystonia, Generalized amyotrophy, Small for gestational age |
OMIM:618910 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Distal lower limb muscle weakness, Difficulty walking, Distal amyotrophy |
ORPHA:468661 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Skeletal muscle atrophy, Bradykinesia |
OMIM:183050 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Limb muscle weakness, Steppage gait, Flexion contracture, Distal amyotrophy, Foot dorsiflexor wea... |
OMIM:609260 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Wide nose, Cleft ala nasi, Type I diabet... |
ORPHA:3044 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Wide nasal bridge, Cryptorchidism |
ORPHA:377 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Myopathy, Ataxia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Hyperlordosis, Flexion c... |
OMIM:160150 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis, Arthrogryposis multiplex congenita, Broad-based gait, Distal amyotrophy |
OMIM:162370 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... |
ORPHA:353327 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Skeletal muscle atrophy, Inability to walk, Oculogyric crisis, Scoliosis, Difficulty wa... |
ORPHA:330050 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Ataxia, Inability to walk, Unsteady gait, Obesity, Scoliosis |
OMIM:618443 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Inability to... |
ORPHA:596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Foot dorsiflexor weakness, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:613287 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Scoliosis, Distal amyotrophy |
OMIM:601382 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Spastic gait, Kyphoscoliosis, Facial hypotonia, Bradykinesia, Shuffling gait, Wrist fle... |
OMIM:300055 |
Morm Syndrome |
|
Hyperactivity, Truncal obesity |
ORPHA:75858 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Scoliosis, Kyphosis |
ORPHA:276630 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Weakness of facial musculature, Small for gestational age, Arthrogryposis multiplex congenita, Ky... |
OMIM:618484 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Scoli... |
OMIM:618291 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Dysmetria, Spastic gait, Flexion contracture, Lower limb muscle weakness |
OMIM:312920 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Microcephaly, Abnormality of the basal ganglia |
ORPHA:67046 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity, EMG: myopathic abnormalities, Akinesia |
OMIM:618822 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Steppage gait, Ataxia, Distal amyotrophy, Foot dorsiflexor weakness, Gait ataxia |
OMIM:618387 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture, Reduced subcutaneous adipose tissue |
OMIM:612079 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Oromandibular dystonia, Bradykinesia, Tip-toe gait, Distal amyotrophy |
OMIM:615643 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Gait disturbance, Scoliosis, Truncal obesity, Kyphosis |
ORPHA:2429 |
Shox-Related Short Stature |
|
Obesity, Short neck, Scoliosis, Skeletal muscle hypertrophy |
ORPHA:314795 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Ovarian Dysgenesis 1 |
|
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level |
OMIM:233300 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Dysmetria, Spastic gait, Ataxia, Lower limb muscle weakness, Lower limb amyotrophy |
OMIM:610357 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Steppage gait, Distal amyotrophy |
OMIM:610100 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed... |
ORPHA:52430 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... |
ORPHA:786 |
Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Waddling gait, Facial palsy |
OMIM:610542 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Attention deficit hyperactivity disorder, Obesity, Failure to thrive in infancy |
OMIM:613670 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Skeletal muscle atrophy, Hand muscle atrophy |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:606483 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated ... |
OMIM:613530 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystrophy, Calf muscle hypertr... |
OMIM:616827 |
Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Spinal muscular atrophy |
OMIM:253300 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Distal amyotrophy |
OMIM:614751 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Scoliosis |
OMIM:301900 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle lipid content, Muscle fiber hypertrophy, Ragged-red muscle fibers, Failure to th... |
OMIM:500009 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:289548 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Baralle-Macken Syndrome |
|
Dystonia, Obesity, Inability to walk, Kyphosis |
OMIM:619255 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:168558 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... |
ORPHA:90794 |
Charcot-Marie-Tooth Disease Type 4G |
|
Upper limb amyotrophy, Gait imbalance, Loss of ambulation, Difficulty walking, Distal amyotrophy,... |
ORPHA:99953 |
Myopathy, Mitochondrial, And Ataxia |
|
Dysmetria, Ataxia, Inability to walk, Dysdiadochokinesis, Truncal ataxia, Increased variability i... |
OMIM:617675 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Gait ataxia, Ataxia, Distal amyotrophy |
OMIM:607317 |
Spinal Muscular Atrophy, Type Ii |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:253550 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... |
OMIM:255160 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrophy, Scoliosis, Difficulty... |
OMIM:159950 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Failure to thrive in infancy, Myopathy, Skeletal muscle atrophy, Weakness of facial musculature, ... |
ORPHA:254875 |
Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... |
OMIM:616867 |
Charcot-Marie-Tooth Disease Type 4A |
|
Hand muscle weakness, Weakness of facial musculature, Spinal deformities, Joint contracture of th... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease Type 4D |
|
Upper limb amyotrophy, Kyphoscoliosis, Inability to walk, Unsteady gait, Distal lower limb muscle... |
ORPHA:99950 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Kyphosis, Ataxia, Waddling gait, Unsteady gait, Obesity, Scoliosis, Difficulty walking |
ORPHA:464282 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Abnormality of the vertebral column, Obesity |
ORPHA:2206 |
Spinal Muscular Atrophy, X-Linked 2 |
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Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... |
OMIM:301830 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
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Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Calf muscle hypertrop... |
ORPHA:565899 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
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Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
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Gait disturbance, Steppage gait, EMG: myopathic abnormalities, Inability to walk, Distal amyotrop... |
ORPHA:99939 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... |
ORPHA:247768 |
47,Xyy Syndrome |
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Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... |
ORPHA:8 |
Premature Ovarian Failure 3 |
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Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
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Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... |
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