Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Waddling gait, Thoracic scoliosis, Scapular winging, Calf muscle pseudohypertrophy, Proximal musc... |
ORPHA:62 |
Exercise Intolerance, Riboflavin-Responsive |
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Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
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Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Distal Anoctaminopathy |
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Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
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Muscular dystrophy, Muscle weakness, Gait ataxia |
OMIM:253590 |
Testicular Microlithiasis |
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Testicular microlithiasis |
OMIM:610441 |
Myopathy, Distal, 5 |
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Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
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Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Gowers sign, Generalized... |
OMIM:613723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... |
OMIM:254110 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Scoliosi... |
OMIM:613204 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
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Scapular winging, Pelvic girdle amyotrophy, Ankle flexion contracture, Proximal muscle weakness, ... |
ORPHA:267 |
Tubular Aggregate Myopathy |
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Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Posterior Column Ataxia |
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Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis |
OMIM:176250 |
Myopathy, Scapulohumeroperoneal |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Distal Myopathy With Anterior Tibial Onset |
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Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... |
ORPHA:178400 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Waddling gait, Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hyp... |
ORPHA:34515 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
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Scapular winging, Facial palsy, Beevor's sign, Pelvic girdle muscle weakness, Foot dorsiflexor we... |
OMIM:158901 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Back pain, Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle ... |
OMIM:618129 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centra... |
OMIM:617760 |
Muscular Dystrophy, Mabry Type |
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Late-onset muscular dystrophy |
OMIM:310000 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Abdominal wall muscle w... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
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Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Hype... |
OMIM:611588 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
Muscular Dystrophy, Congenital, With Rapid Progression |
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Congenital muscular dystrophy, Muscle weakness |
OMIM:254100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Miyoshi Muscular Dystrophy 1 |
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Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we... |
OMIM:254130 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Tibial Muscular Dystrophy, Tardive |
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EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... |
ORPHA:603 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
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Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... |
OMIM:620285 |
Nonaka Myopathy |
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Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Spinal Muscular Atrophy, Type Iv |
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Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
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Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotrophy, Calf muscle hypertr... |
OMIM:601287 |
Laing Early-Onset Distal Myopathy |
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Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
Distal Nebulin Myopathy |
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Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Myopathy, Distal, Tateyama Type |
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Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Rhabdomyolysis, Susceptibility To, 1 |
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Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
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Scapular winging, Pelvic girdle muscle atrophy, Calf muscle pseudohypertrophy, Limb-girdle muscle... |
OMIM:604286 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally n... |
OMIM:608358 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Distal upper limb... |
OMIM:613319 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Myasthenic Syndrome, Congenital, 14 |
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Waddling gait, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-... |
OMIM:616228 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
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Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... |
OMIM:601846 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Myopathy, Distal, 3 |
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Distal muscle weakness, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, Late-on... |
OMIM:610099 |
Desminopathy |
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Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... |
ORPHA:98909 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... |
OMIM:609308 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, S... |
OMIM:619566 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... |
OMIM:253600 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Episodic Ataxia, Type 7 |
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Episodic ataxia, Muscle weakness |
OMIM:611907 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
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Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Scoliosis, Generalized amyotroph... |
OMIM:616516 |
Congenital Myopathy 3 With Rigid Spine |
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Failure to thrive, Decreased body weight, Neck flexor weakness, Facial palsy, Poor head control, ... |
OMIM:602771 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Spinal rigidity, Gowers sign, Achilles tendon contracture, Generalized muscle hyper... |
OMIM:604801 |
Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Inability t... |
OMIM:617066 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency d... |
OMIM:610687 |
Spastic Paraplegia 18B, Autosomal Recessive |
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Lower limb spasticity, Skeletal muscle atrophy, Inability to walk, Kyphosis, Babinski sign, Spast... |
OMIM:611225 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... |
OMIM:611307 |
Hereditary Myopathy With Early Respiratory Failure |
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Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... |
ORPHA:178464 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... |
ORPHA:598 |
Finnish Upper Limb-Onset Distal Myopathy |
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Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Distal Myotilinopathy |
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Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... |
ORPHA:98896 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers,... |
ORPHA:86812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle musc... |
OMIM:603511 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Limb-girdle muscle weakness, Gowers sign, Muscular dystrophy |
OMIM:616094 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Poor head control, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Proximal mu... |
OMIM:300717 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... |
OMIM:608807 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Proximal amyotrophy, Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness |
OMIM:612998 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Gowers sign, Proximal muscle weakness, Z-... |
OMIM:619178 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Kyphoscoliosis,... |
OMIM:609285 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... |
OMIM:620246 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Reduced forced vital capac... |
OMIM:620386 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... |
OMIM:620249 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... |
OMIM:158590 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Limb mus... |
OMIM:500002 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Inc... |
ORPHA:276435 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... |
OMIM:605355 |
Multifocal Motor Neuropathy |
|
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... |
ORPHA:641 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Proximal m... |
OMIM:618484 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Distal amyotrophy, Scoliosis, Type... |
OMIM:619042 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... |
ORPHA:610 |
Myopathy, Myofibrillar, 6 |
|
Thoracic scoliosis, Distal muscle weakness, Scapular winging, Facial palsy, Proximal muscle weakn... |
OMIM:612954 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Inability to walk, Progressive proxim... |
ORPHA:2596 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Upper motor neuron dysfunction, Spastic paraplegia, Lower limb muscle weakness, Ataxia |
ORPHA:306617 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Progressiv... |
OMIM:248800 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy |
OMIM:310095 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally n... |
OMIM:255200 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Gowers sign, Flexion contr... |
OMIM:253700 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... |
ORPHA:488594 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... |
OMIM:620378 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated ske... |
OMIM:255310 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal muscle weakness, Postural tremor, Proximal muscle weakness, Progr... |
OMIM:608627 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature, Ataxia |
ORPHA:551 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... |
OMIM:180800 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Scoliosis, Loss of ambul... |
OMIM:619518 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weak... |
ORPHA:98897 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Opisthotonus, Choreoat... |
OMIM:619653 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contra... |
OMIM:607855 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Myositis |
|
Myositis, Proximal muscle weakness |
OMIM:160750 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
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Skeletal muscle atrophy, Cachexia, Hyperlordosis, Spinal rigidity, Flexion contracture, Limitatio... |
ORPHA:157973 |
Dpm3-Cdg |
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Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle... |
ORPHA:263494 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... |
OMIM:616668 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
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Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
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Generalized muscle weakness, Muscular dystrophy |
OMIM:613152 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
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Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo... |
OMIM:182815 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
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Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t... |
OMIM:620068 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
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Fatty replacement of skeletal muscle, Babinski sign, Hand tremor, Distal amyotrophy, Frequent fal... |
OMIM:618279 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Hyperlordosis, Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hy... |
OMIM:613157 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Opticocochleodentate Degeneration |
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Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Klhl9-Related Early-Onset Distal Myopathy |
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Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, St... |
ORPHA:399081 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Respiratory distress, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy |
OMIM:619099 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
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Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... |
OMIM:601472 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ... |
OMIM:605637 |
Muscular Dystrophy, Congenital, Lmna-Related |
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Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Respiratory insu... |
OMIM:613205 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Vocal cord paralysis, Distal a... |
OMIM:607641 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
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Waddling gait, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dy... |
ORPHA:280333 |
Episodic Ataxia, Type 8 |
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Ataxia, Slurred speech, Episodic ataxia, Muscle weakness, Intention tremor |
OMIM:616055 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
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Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination, Thenar muscle... |
OMIM:606483 |
Myopathy, Distal, 4 |
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Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
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Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... |
OMIM:613287 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Kyphosi... |
ORPHA:101078 |
Bethlem Myopathy 2 |
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Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Scoliosis, I... |
OMIM:616471 |
Acetyl-Coa Carboxylase Deficiency |
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Myopathy |
OMIM:613933 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temp... |
OMIM:619574 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
Sandhoff Disease, Adult Form |
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Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait... |
ORPHA:309169 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
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Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
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Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Myopathy, Distal, 1 |
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Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Di... |
OMIM:160500 |
Congenital Myopathy 5 With Cardiomyopathy |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Deafness, Autosomal Dominant 9 |
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Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
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Skeletal muscle hypertrophy, Muscular dystrophy, Proximal muscle weakness |
OMIM:613158 |
Cryptorchidism, Unilateral Or Bilateral |
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Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Progressive external ophthalmoplegia, Ataxia, Cachexia, Ragged-red muscle fibers, Generalized mus... |
OMIM:613662 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Vocal cord pares... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Nemaline Myopathy 5C, Autosomal Dominant |
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Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Hyper... |
OMIM:620389 |
Dystonia 6, Torsion |
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Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spina... |
ORPHA:486815 |
Proximal Myopathy With Extrapyramidal Signs |
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Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Proxim... |
ORPHA:401768 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
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Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... |
OMIM:613641 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Muscula... |
ORPHA:459033 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Scapuloperonea... |
OMIM:300696 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... |
OMIM:254090 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph... |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... |
OMIM:601382 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Ragged-red muscle fibers, Growth delay, Myopathy, Difficulty walking, Spas... |
OMIM:618242 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Rigidity, Hypertonia, Muscular dystrophy |
OMIM:613869 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gait, Myopathy, Limb-girdle muscul... |
OMIM:612937 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Neck muscle weakness, Mus... |
OMIM:614302 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Scoliosis, Proximal muscle weakness |
OMIM:614750 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Tremor, Flexio... |
OMIM:609260 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Loss of ambulation, Myopathy |
OMIM:606768 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Foot dorsif... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Foot dorsiflexor weakness |
OMIM:616039 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Proximal muscle ... |
OMIM:616040 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Br... |
ORPHA:13 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... |
OMIM:617087 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations... |
OMIM:615048 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes... |
OMIM:616924 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Unsteady gait, Intrinsic hand muscle at... |
ORPHA:3115 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Distal amyotr... |
OMIM:607677 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Spinal rigidity, Perone... |
OMIM:181350 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Lower limb muscle weakness, Spinal muscular atrophy, Fasciculations, Difficulty walking, Weakness... |
OMIM:615575 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m... |
ORPHA:97240 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
OMIM:618912 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Foot dorsiflexor weakn... |
OMIM:607731 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility, Gait disturbance, Cubitus valgus, Congenital muscular dystrophy |
ORPHA:1875 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... |
OMIM:606612 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Skeletal muscle atrophy, Axial hypotonia, Opisthotonus |
OMIM:616896 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... |
ORPHA:169186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... |
OMIM:616812 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... |
OMIM:616687 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:255160 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... |
OMIM:607706 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Tetraparesis, Muscular dystrophy,... |
OMIM:616827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Poor head control, Ataxia, Inability to walk, Muscular d... |
OMIM:615350 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased nerve conduction velocity, Dec... |
ORPHA:90103 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... |
ORPHA:497764 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor... |
ORPHA:101010 |
Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Muscular dystrophy, Muscle weakness |
OMIM:300376 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Axonal regeneration, Distal lower lim... |
OMIM:615185 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
ORPHA:101097 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Myelin outfoldings, Li... |
OMIM:118200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Foot dorsiflexor weakness, Frequent fa... |
OMIM:619216 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Limb joint contracture, Parkinsonism, Axial hypotonia, Tremo... |
OMIM:617013 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity, Muscle w... |
OMIM:611105 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Nocturnal hypoventilation, Increased variabili... |
OMIM:616470 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Ataxia |
ORPHA:2579 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... |
OMIM:608323 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Gowers sign, Axial muscle weakness, Knee flexion contracture, Steppage gait, Lower limb muscle we... |
OMIM:615290 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Proximal lower limb amyotrophy, Hip contracture, Distal muscle weak... |
OMIM:600175 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... |
ORPHA:2589 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Axonal loss, Dystonia, Peripheral demyelination |
OMIM:616684 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in... |
ORPHA:254875 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... |
ORPHA:300605 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... |
ORPHA:352675 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Pro... |
OMIM:619542 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Frequent fa... |
ORPHA:353 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Generalized amyotrophy, Abnormal myelination, ... |
ORPHA:401820 |
Central Core Disease |
|
Joint laxity, Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocat... |
ORPHA:597 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Small hypot... |
OMIM:609311 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Proxima... |
OMIM:615352 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... |
ORPHA:101075 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Proximal muscle weakness, Hyperlordosis, Kyphosis, Achilles tend... |
OMIM:607155 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro... |
OMIM:610542 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased nerve conduction vel... |
OMIM:611228 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Distal lower limb muscle weakness, Onion bulb formation, Gait... |
ORPHA:98916 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... |
ORPHA:171442 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Facial palsy, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyra... |
OMIM:607483 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contractur... |
OMIM:608840 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Short stature, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lip... |
OMIM:619065 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Frequent falls, Spinal rigidity,... |
OMIM:161800 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Go... |
OMIM:617258 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... |
ORPHA:596 |
Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Waddling g... |
ORPHA:171439 |
Focal Myositis |
|
Myositis, Muscle weakness |
ORPHA:48918 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Distal muscle weakness, Im... |
ORPHA:435387 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb... |
OMIM:615035 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... |
OMIM:302801 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Upper limb muscle weakness, Distal amyotrophy, Peripheral hypomyelination, Onion bulb formation, ... |
OMIM:605253 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Lower limb muscle weakness, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:145900 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... |
ORPHA:98905 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Spinal rigidity, Int... |
ORPHA:324604 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Snijders Blok-Fisher Syndrome |
|
Facial hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Spasticity |
OMIM:618604 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Progr... |
ORPHA:254361 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus |
OMIM:159900 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... |
OMIM:300695 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Vocal cord paralysis, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Skeletal muscle hypertrophy, Gait... |
ORPHA:99014 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphol... |
ORPHA:75840 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Proximal limb muscle stiffness, Myoclonic s... |
OMIM:184850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Inability to walk, Flexion contracture, Hip dislocation, Respiratory... |
OMIM:613156 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... |
ORPHA:2932 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal muscle weakness, Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Dista... |
OMIM:302802 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... |
OMIM:157640 |
Dystonia 15, Myoclonic |
|
Myoclonus, Writer's cramp, Dystonia |
OMIM:607488 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Poor head control, Facial palsy, Distal mu... |
ORPHA:353327 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Distal muscle weakness, Facial palsy, Impaired pain sensation, Flexion contr... |
OMIM:607684 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... |
OMIM:614399 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme... |
OMIM:614877 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Proximal muscle weakness, Hyperlordosis, Gowers sign, Kyphosis, Spinal rig... |
OMIM:617404 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski... |
OMIM:613954 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insuffi... |
OMIM:310200 |
Charcot-Marie-Tooth Disease Type 1A |
|
Skeletal muscle atrophy, Distal muscle weakness, Kyphoscoliosis, Sensory ataxia, Distal sensory i... |
ORPHA:101081 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Scapular winging, Facial palsy, Beevor's... |
OMIM:158900 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Upper limb amyotrophy, Limb fasciculations, Steppage gait, Lower li... |
ORPHA:99940 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Congenital Myopathy 14 |
|
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased nerve conduction velocity, P... |
ORPHA:101082 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Distal amyotrophy, Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili... |
OMIM:619473 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Fatiguable weakness of proximal l... |
ORPHA:206569 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... |
OMIM:609284 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Shoulder girdl... |
OMIM:253400 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Axonal loss, Abnormali... |
OMIM:617672 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... |
OMIM:500009 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Ataxia, Respiratory insufficiency due to muscle weakness, Inability to w... |
OMIM:618276 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial conn... |
OMIM:602541 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Spastic paraplegia, Optic atrophy, Babinski sign, Abnormal myelinat... |
ORPHA:431329 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdi... |
OMIM:614487 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hyperlordosis, Proximal muscle weakness, Chorea, Myopathy, Limb-girdle muscular dy... |
ORPHA:369840 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Distal muscle weakness, Paralysis, Lower-limb joint contracture, Muscle ... |
OMIM:613710 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... |
OMIM:610100 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment |
OMIM:620111 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Failur... |
ORPHA:96183 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Developmental And Epileptic Encephalopathy 101 |
|
Axial hypotonia, Limb joint contracture, Hypotonia, Opisthotonus, Myoclonus |
OMIM:619814 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Tremor, Inability to walk, Kyphosis, Gait ataxia, Pill... |
ORPHA:3095 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... |
OMIM:616907 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... |
OMIM:600361 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis |
OMIM:260540 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign... |
OMIM:607317 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnorm... |
OMIM:613135 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Decreased number of large periphera... |
OMIM:605285 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal amyotrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyel... |
OMIM:311070 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Myopathy, Abdominal obes... |
OMIM:615980 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Kyphoscoliosis, Shuffling gait, Hypermobility of interphalangeal joints, A... |
ORPHA:3433 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Chorea, Myopathy, Hyperkinetic movements, Limb-girdle muscu... |
ORPHA:369847 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Dystonia, CNS demyelination, F... |
OMIM:618237 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Claw hand deformity, Upper limb amyotrophy, Steppage gait, Fascicul... |
OMIM:606595 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Hand muscle atrophy, Toe extensor amyotro... |
ORPHA:98856 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... |
OMIM:615959 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Foot dorsiflexor weakness, Peripheral demyelination, Axonal degeneration/regen... |
OMIM:607736 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment |
OMIM:605589 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Growth delay, Ankle clonus, Fasciculations,... |
OMIM:620323 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Distal muscle weakness, Peripheral axonal neuropathy, Proximal muscl... |
ORPHA:99939 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal muscle weakness, Abnormal auditory evoked potentials, Impaired distal proprioception, Decr... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal lo... |
OMIM:302800 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Inability to walk, Quadriceps... |
ORPHA:206546 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Poor head control, Generalized limb muscle atrophy, Hype... |
OMIM:615351 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Ataxia, Impaired distal propri... |
OMIM:616688 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Muscular dystrophy |
OMIM:204730 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Axonal dege... |
OMIM:600882 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... |
OMIM:609286 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... |
OMIM:226670 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... |
OMIM:620166 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... |
ORPHA:272 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Fasciculations, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Peripheral demyelination |
ORPHA:99944 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, D... |
OMIM:615376 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,... |
OMIM:300816 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... |
ORPHA:1368 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Parkinsonism, Babinski sign, Impaired vibration sensation in the l... |
OMIM:604187 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Hyperlordosis, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibe... |
OMIM:600462 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Microcephaly, Decreased nerve conduction velocity, Ophthalmoplegia, Distal ... |
OMIM:615284 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle weakness, Sensorineural ... |
OMIM:118300 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb mu... |
ORPHA:97229 |
Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... |
OMIM:606070 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal muscle weakness, Fo... |
OMIM:607678 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Charcot-Marie-Tooth Disease Type 4A |
|
Distal muscle weakness, Impaired distal proprioception, Decreased nerve conduction velocity, Impa... |
ORPHA:99948 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo... |
OMIM:616287 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Increased muscle lipid content, Myopathy, Fasciculations, Difficulty walking |
OMIM:610717 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Bea... |
OMIM:616583 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Muscle Filaminopathy |
|
Back pain, Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormal... |
ORPHA:171445 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
X-Linked Progressive Cerebellar Ataxia |
|
Distal lower limb amyotrophy, Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysart... |
ORPHA:1175 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:605726 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Gowers sign, Ragged-red muscle fibers, Axial muscle weakness, Generalized amy... |
OMIM:620351 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... |
OMIM:618323 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy |
OMIM:309930 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, First dorsal interossei m... |
ORPHA:139536 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Generalized muscle weakness, Tongue fasciculation... |
ORPHA:238329 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Cednik Syndrome |
|
Poor head control, Ataxia, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Hypogon... |
ORPHA:66631 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... |
OMIM:617114 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... |
ORPHA:972 |
Pendred Syndrome |
|
Hyperparathyroidism, Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ... |
ORPHA:705 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Myopathy, Ataxia |
ORPHA:104 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Inability to walk, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Musc... |
OMIM:613155 |
Isaacs Syndrome |
|
Weight loss, Distal sensory impairment, Calf muscle hypertrophy, Fasciculations, Muscle weakness |
ORPHA:84142 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, P... |
ORPHA:99950 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... |
OMIM:604320 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Inability ... |
ORPHA:3101 |
Pontocerebellar Hypoplasia, Type 2B |
|
Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Opisthotonus, Extrapyramidal dyskinesi... |
OMIM:612389 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Ophthalmoplegia, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive cer... |
ORPHA:276193 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... |
OMIM:618285 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign, Impaired vibration ... |
OMIM:614409 |
Congenital Myopathy 15 |
|
Waddling gait, Osteopenia, Reduced forced vital capacity, Fatty replacement of skeletal muscle, I... |
OMIM:620161 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot... |
OMIM:615159 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Waddling gait, Distal muscle weakness, Ataxia, Proximal muscle weakness, Gowers sign, Babinski si... |
OMIM:617882 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross... |
OMIM:619903 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Truncal ataxia, Gait ataxia, Joint hyperflexibility, Inappropria... |
ORPHA:85278 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Apnea, Facial hypotonia, Ataxia, Short neck, Tremor, Kyphoscoliosis, Flexion cont... |
OMIM:300055 |
Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con... |
ORPHA:97244 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, Distal... |
OMIM:608895 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Opisthotonus |
OMIM:250800 |
Null Syndrome |
|
Ataxia, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, Peripheral demyelin... |
ORPHA:280234 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Scol... |
OMIM:618416 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis, Poor head... |
OMIM:614932 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity, Peroneal muscle weakness |
OMIM:614751 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... |
ORPHA:95433 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Progressive Pseudorheumatoid Dysplasia |
|
Waddling gait, Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscolio... |
OMIM:208230 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231169 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... |
ORPHA:2926 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:604563 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia |
ORPHA:1188 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Upper limb amyotrophy, Distal amyotrophy, Distal lower limb muscle ... |
ORPHA:99953 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Hypergonadotropic hypogo... |
OMIM:613724 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Hereditary Geniospasm |
|
Abnormality of mentalis muscle, Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia |
OMIM:618093 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Lower limb amyotrophy, Dysmetri... |
OMIM:610357 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Small for gestational age, Ky... |
OMIM:613330 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Vocal cord par... |
ORPHA:397744 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Gait disturbance, Difficulty ... |
ORPHA:352470 |
Typical Nemaline Myopathy |
|
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... |
ORPHA:171436 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Arts Syndrome |
|
Progressive muscle weakness, Ataxia, Tetraplegia |
OMIM:301835 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural t... |
ORPHA:98805 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthotonus, Hypertonia, ... |
OMIM:619847 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Ataxia, Acute rhabdomyolysis, Chorea, Axonal degeneration, Babins... |
OMIM:604168 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima... |
OMIM:604484 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Tachypnea, Ankle clonus, Lethargy, Failure to thrive |
ORPHA:247525 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cogwheel ... |
ORPHA:254886 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, Ophthalmoplegia, Unsteady gait... |
OMIM:618124 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Ataxia |
OMIM:551500 |
Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Kyphosis, Gait apraxia, ... |
OMIM:312750 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... |
ORPHA:329478 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter, Spasticity |
OMIM:125250 |
Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations, CNS demyelination |
OMIM:611721 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Infantile Refsum Disease |
|
Ataxia, Facial palsy, Progressive muscle weakness, Spasticity, Failure to thrive |
ORPHA:772 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Progressive intervertebral... |
ORPHA:480 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Distal muscle weakness, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Distal... |
OMIM:618387 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Dysmetria, Seconda... |
OMIM:618404 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Short stature, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance |
ORPHA:2349 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Poor head control, Facial palsy, Abnormal muscle fiber ... |
ORPHA:171881 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis |
ORPHA:2047 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Spastic paraplegia |
OMIM:300076 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... |
OMIM:619028 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, EEG abnormality, Abnormal per... |
ORPHA:457205 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
OMIM:300559 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... |
OMIM:617070 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Microcephaly, Cryptor... |
ORPHA:163976 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... |
OMIM:218000 |
Foxg1 Syndrome |
|
Kyphoscoliosis, Inability to walk, Abnormal respiratory system physiology, Choreoathetosis, Impai... |
ORPHA:561854 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Broad-based gait, Progressive external ophthalmoplegia, Ataxia, Clonus, ... |
OMIM:616479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hypotonia, Muscular dystrophy |
OMIM:614830 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita, Cerebral dysmyelination |
OMIM:201550 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa... |
ORPHA:101077 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Kyphoscoliosis, Respiratory insufficiency, Generalized amyotrophy, Scoliosi... |
OMIM:614707 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadoc... |
ORPHA:254881 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Ankle flexion contracture, Tremor, Patent ductus arteriosus, Knee f... |
OMIM:608799 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations, Proximal amyotrophy |
OMIM:608030 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, ... |
ORPHA:95434 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Impaired distal proprioception... |
OMIM:162400 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Poor head control, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoa... |
ORPHA:319514 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Hypotonia, Knee flexion contracture, Facial diplegia, Distal ... |
OMIM:616286 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... |
OMIM:614436 |
Congenital Disorder Of Glycosylation, Type Ip |
|
Neonatal hypotonia, Hypotonia, Opisthotonus |
OMIM:613661 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus, Increased variability i... |
OMIM:617235 |
Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618792 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... |
ORPHA:99845 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Vertigo, Crani... |
ORPHA:268882 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... |
ORPHA:101111 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Scoliosis, M... |
ORPHA:559 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dy... |
ORPHA:313772 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Joint hypermobility |
ORPHA:300179 |
Chiari Malformation Type Ii |
|
Ataxia, Hypotonia, Opisthotonus, Generalized hypotonia, Limb muscle weakness |
OMIM:207950 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Myopathy, Hypertonia, Dystonia, Failure to thrive |
ORPHA:26792 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Genu valgum, Scoliosis, Neonatal breathing ... |
OMIM:611560 |
Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ... |
OMIM:610246 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Neonatal hypotonia... |
OMIM:615851 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls |
OMIM:616540 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Hypotonia, Gait ataxia, Opisthotonus, Myoclonus, Generalized hypotonia, ... |
OMIM:103050 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... |
ORPHA:1435 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Lower limb muscle weakness, Truncal titubation, Babinski sign, Abnormal pyr... |
OMIM:610532 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Opisthotonus, Congenital contracture, Extrapyramidal dyskinesia, Dystonia |
OMIM:277470 |
Multicentric Reticulohistiocytosis |
|
Muscle weakness, Cachexia |
ORPHA:139436 |
Adult Krabbe Disease |
|
Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsiness, Upper limb mus... |
ORPHA:206448 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive |
OMIM:613752 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, In... |
ORPHA:681 |
Ravine Syndrome |
|
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Babinski sign, Gait ataxia, CNS demyelination, Peripheral demyelination |
OMIM:249900 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Hypotonia, Paralysis |
OMIM:612740 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Respiratory insufficie... |
ORPHA:702 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... |
ORPHA:2386 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... |
ORPHA:98863 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, P... |
ORPHA:101085 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... |
OMIM:604360 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98855 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Hy... |
OMIM:614969 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Neonatal hypotonia, Spasticity, Opisthotonus |
OMIM:610678 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Krabbe Disease |
|
Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu... |
OMIM:245200 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Hypertonia, Hemiplegia/hemiparesis |
ORPHA:2571 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... |
OMIM:619519 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Impaired distal proprioception... |
OMIM:270685 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... |
ORPHA:401830 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Failure to thrive, Hypergonadotropic hypogonadism, Hy... |
ORPHA:163971 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Tremor, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Chor... |
ORPHA:765 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Distal muscle weakness, Cachexia, External ophthalmoplegia, Ragged-red mus... |
ORPHA:298 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Arthritis, Cough, Decreased DLCO |
OMIM:616414 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Small for gestational age, Peripheral demyelin... |
OMIM:616733 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Muscular edema, Myositis |
ORPHA:3165 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c... |
ORPHA:93360 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Hyperlordosis, Proximal muscle weakn... |
OMIM:613327 |
Hypophosphatasia, Childhood |
|
Waddling gait, Myopathy, Short stature |
OMIM:241510 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Hypotonia, Spastic tetraplegia, Eyelid myoclonus, Opisthotonus |
OMIM:619913 |
Glutaric Acidemia I |
|
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... |
OMIM:231670 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive |
OMIM:620007 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Spastic Paraplegia Type 7 |
|
Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ... |
ORPHA:99013 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... |
OMIM:615157 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Progressive muscle weakness, Ragged-red muscle fibers, Myoclonus, Loss of ambulat... |
OMIM:607426 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Meta... |
ORPHA:2774 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude, Distal lower limb muscle weakness |
OMIM:619112 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Fasciculations |
ORPHA:65684 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis |
OMIM:170400 |
Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Frontal bossing, Ataxia, Decreased nerve conduction velocity, Generalized muscle weakness, Optic ... |
OMIM:256600 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Ataxia, Babins... |
OMIM:609195 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:261 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Axial hypotonia, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function... |
OMIM:605711 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:98853 |
Idiopathic Camptocormia |
|
Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal mus... |
ORPHA:1320 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Dystonia |
OMIM:300857 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor, Abnormal myelination |
ORPHA:401835 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, External ophthalmoplegia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumb... |
ORPHA:3041 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia |
OMIM:609384 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Diaphragmatic paralysis |
ORPHA:868 |
Woolly Hair Nevus |
|
Precocious puberty, Enlarged vestibular aqueduct |
ORPHA:79414 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum... |
ORPHA:2257 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Distal muscle weakness, Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathet... |
OMIM:619735 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... |
ORPHA:590 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Lower limb muscle weakn... |
ORPHA:306511 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Frequent falls, Generalized dystonia, Spasticity, Opisthotonus |
ORPHA:216866 |
Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl... |
OMIM:156530 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Tremor, Kyphosis, Progressive muscle weakness, Unsteady gait, Respirator... |
OMIM:615512 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Myoclonus, Tetraparesis, Dystonia |
OMIM:616672 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Sco... |
ORPHA:37612 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... |
OMIM:616165 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Flexion contracture, Degenera... |
OMIM:301830 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps wea... |
ORPHA:98913 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ... |
ORPHA:59 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia, Microcephaly, Decreased nerve conduction velocity, Sensorineural hearing impair... |
ORPHA:1933 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F... |
ORPHA:319199 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Proximal muscle weakness, Fatigable weakness, Myopathy... |
ORPHA:42 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Axonal loss, Distal upper limb amyotrophy, Oni... |
OMIM:614455 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Microcephaly, Cryptorchidism, Optic atrophy, Brachycep... |
OMIM:615419 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Kyphoscoliosis, Hyperlordosis, Accelerated skeletal maturation, Obesity, Advance... |
OMIM:618363 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited ... |
OMIM:300280 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615368 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnorm... |
ORPHA:445038 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,... |
OMIM:500013 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Hypotonia, Tetraplegia, Opisthotonus, Hypertonia |
OMIM:619272 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Flexion contracture, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic movem... |
OMIM:616271 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Sensory axonal neuropathy, Fasciculations, Foot dorsiflexor weakness |
OMIM:137200 |
Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nem... |
OMIM:617336 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... |
ORPHA:98813 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck... |
OMIM:616801 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Broad-based gait, Crackles... |
OMIM:610978 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Unsteady gait, Kyphoscoliosis, Dystonia |
OMIM:301107 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Waddling gait, Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, D... |
OMIM:184252 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Premature ovarian insufficiency, Muscle wea... |
ORPHA:2928 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Poor head control, Peripheral axonal neuropathy, Facial pals... |
OMIM:617519 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Unsteady gait, Joint contra... |
OMIM:615919 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Failure to thrive |
OMIM:614096 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina... |
OMIM:609560 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Dysmetria, Ankle clonus, Distal... |
OMIM:275900 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Canavan Disease |
|
Abnormal pyramidal sign, Hypotonia, Opisthotonus |
OMIM:271900 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... |
OMIM:136300 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... |
ORPHA:178148 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Decreased ... |
OMIM:164400 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotrophy, Falls, Pelvi... |
OMIM:615156 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, Failure to thrive |
OMIM:616494 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Vertebral wedging, Genu valgum, Skeletal muscle hypertrophy, Firm muscles |
OMIM:255710 |
D-Glyceric Aciduria |
|
Axial hypotonia, Spastic tetraplegia, Hypotonia, Opisthotonus, Myoclonus, Neonatal hypotonia, Spa... |
OMIM:220120 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to... |
ORPHA:258 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Chst3-Related Skeletal Dysplasia |
|
Waddling gait, Enlarged joints, Kyphoscoliosis, Flexion contracture, Abnormality of the elbow, Ab... |
ORPHA:263463 |
Alg11-Cdg |
|
Axial hypotonia, Ataxia, Opisthotonus, Hypertonia, Infantile muscular hypotonia, Limb hypertonia |
ORPHA:280071 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Axonal loss, Myoclonus, Apraxia, Spasticity, Peripheral demyelination |
OMIM:221770 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Flexion contracture, Resp... |
OMIM:215100 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Hypotonia, Opisthotonus, Myoclonus, Gener... |
OMIM:620352 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Anhidrosis, Distal muscle weakness, Impaired pain sens... |
OMIM:613640 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased number of peri... |
OMIM:607250 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Small for gestational age, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Poor head control, Ataxia, Spastic tetraparesis, Proximal muscle weaknes... |
ORPHA:3208 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Dystonia, Chorea, Myoclonus, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Dys... |
OMIM:612674 |
Propionic Acidemia |
|
Apnea, Tachypnea, Osteoporosis, Dystonia, Lethargy, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Congenital Myopathy 16 |
|
Scapular winging, Postural tremor, Flexion contracture, Tongue tremor, EMG: myopathic abnormalities |
OMIM:618524 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Upper limb muscle weakness, C... |
ORPHA:225154 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Ataxia |
ORPHA:33574 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Eyelid myoclonus, Myoc... |
ORPHA:2590 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability t... |
OMIM:616756 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Sensorineural hearing i... |
ORPHA:1215 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Abnormal respiratory system physiology, ... |
ORPHA:60033 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... |
ORPHA:79345 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Poor head control, Decreased circulating IgG level |
OMIM:618973 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Distal muscle weakness, Abnormality of female external genitalia, Abnormal peripher... |
ORPHA:168563 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Spast... |
OMIM:617284 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Involuntary movements, Decreased number of large peripheral myelinated nerve fibers, Babi... |
OMIM:271245 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Poor head control, Cachexia, Decreased nerve cond... |
ORPHA:206436 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis |
OMIM:236660 |
Developmental And Epileptic Encephalopathy 16 |
|
Delayed myelination, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, My... |
OMIM:615338 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Bulbar palsy, Parkinsonism, Muscle weakness, Paralysis |
OMIM:105500 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Small hypothena... |
ORPHA:2872 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Distal muscle weakness, Hyperlordosis, Fatty replacement of skeletal muscle, Weakn... |
ORPHA:52430 |
Sandhoff Disease |
|
Kyphosis, Ataxia, Muscle weakness |
ORPHA:796 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas |
OMIM:142680 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness, Optic neuropathy, Tib... |
ORPHA:320375 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... |
ORPHA:320401 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy, Failure t... |
OMIM:615838 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dys... |
OMIM:159550 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Ankle weakness, Foot dorsiflexor weakness, Abnormal motor nerve conduction velocity, Distal senso... |
ORPHA:100998 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Babinski sign, Left ventr... |
OMIM:252011 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Short neck, External ophthalmoplegia, Spastic paraplegia, Flexion c... |
OMIM:619026 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Distal Deletion 10Q |
|
Frontal bossing, Failure to thrive, Ataxia, Craniosynostosis, Microcephaly, Congenital sensorineu... |
ORPHA:96148 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Whipple Disease |
|
Myositis, Pericarditis, Ataxia, Myocarditis, Abnormal pyramidal sign, Uveitis, Arthritis, Myoclon... |
ORPHA:3452 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... |
ORPHA:206559 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Hypertonia, An... |
OMIM:154276 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Distal muscle weakness, Impaired distal proprioception, Impaired distal vibration sensation, Unst... |
OMIM:617633 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Short neck, Delayed epiphyseal ossification, Tachypnea, Delayed skelet... |
OMIM:613320 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Flexion contracture of finger, Ataxia, Optic atrophy, Camptodactyly, Joi... |
OMIM:609033 |
Pulmonary Blastoma |
|
Weight loss, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Decreased sensory... |
OMIM:603472 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior bea... |
OMIM:230650 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... |
OMIM:619461 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Microcephaly, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Failure... |
OMIM:618356 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
49,Xyyyy Syndrome |
|
Low-set, posteriorly rotated ears, Decreased testicular size, Turricephaly, Eunuchoid habitus, Ex... |
ORPHA:99330 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Lumbar hyperlordosis, Congenital hip dis... |
OMIM:255800 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function, Scol... |
OMIM:610743 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Clonus, Axial hypotonia, Achilles tendon contracture, Babinski sign... |
OMIM:618076 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy |
ORPHA:91130 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:618534 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Myasthenia Gravis |
|
Myositis, Bulbar palsy, Hepatitis, Ophthalmoparesis, Rheumatoid arthritis, Hashimoto thyroiditis,... |
ORPHA:589 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Delayed CNS myelination, Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extr... |
ORPHA:352596 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... |
OMIM:211530 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia |
ORPHA:3454 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... |
OMIM:277720 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Dystonia, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, ... |
OMIM:606703 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Tachypnea, Weight loss, Lethargy |
ORPHA:79242 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Stiff neck, Kyphoscoliosis, Respiratory insufficiency, Dystonia |
OMIM:618230 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak... |
OMIM:610131 |
Lesch-Nyhan Syndrome |
|
Hypotonia, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia,... |
OMIM:300322 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... |
OMIM:620011 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Distal muscle weakness, Aganglionic megacolon, Ataxia, Short... |
OMIM:609136 |
Superficial Siderosis |
|
Ataxia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Abnormality of the vest... |
ORPHA:247245 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness |
OMIM:612300 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Abnormality of the sev... |
ORPHA:90117 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Microcephaly, Optic ... |
OMIM:617302 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo... |
OMIM:617675 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Poor head control, Muscular dystrophy, Death in childhood |
OMIM:613153 |
Antisynthetase Syndrome |
|
Myositis, Skin rash, Myocarditis, Keratoconjunctivitis sicca, Muscle weakness |
ORPHA:81 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Neutral Lipid Storage Myopathy |
|
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... |
ORPHA:98908 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Dysesthesia, Axonal loss, Paresthesia, Decreased amplitude o... |
ORPHA:85446 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... |
ORPHA:79139 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Distal muscle weakness, Decreased distal sensory nerve action poten... |
OMIM:618400 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Myelitis |
ORPHA:71211 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Kyphoscoliosis, Tremor, Unsteady gait, Focal dystonia, Blepharospasm, Bradykinesia, Inappropriate... |
ORPHA:99750 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Sialidosis Type 1 |
|
Frontal bossing, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, E... |
ORPHA:812 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Muscle weakness |
ORPHA:85317 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Tremor, Inability to walk, Choreoathetosis, Dystonia, Joint contracture |
OMIM:617664 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... |
OMIM:617143 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, C... |
OMIM:607596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decreased m... |
OMIM:615490 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Waddling gait, Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle a... |
OMIM:612350 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypotonia, Generalized hypotonia, Opisthotonus |
OMIM:210200 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Axial hypotonia, Ataxia, Hypotonia, Gait ataxia, Choreoathetosis, Opisthotonus, Generalized hypot... |
OMIM:619580 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Decreased hip abduction, Camptodactyly of finger, Th... |
OMIM:114300 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myopathy, Myoclonu... |
ORPHA:363400 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Respiratory insufficiency, Facial diplegia... |
OMIM:618186 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... |
ORPHA:39812 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Reduced vital capacity, Kyphoscoliosis, Hand muscle weak... |
ORPHA:99956 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle... |
OMIM:620278 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Tachypnea, Left ventricular noncompaction |
OMIM:616501 |
Codas Syndrome |
|
Broad skull, Sensorineural hearing impairment, Cryptorchidism, Rectovaginal fistula, Conductive h... |
OMIM:600373 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Tachypnea, Decreased body weight |
OMIM:620085 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Lower limb muscle weakness, Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Arthritis, Hemiplegia, Malar rash, Nephritis, Muscle wea... |
ORPHA:93552 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Joint stiffness |
ORPHA:1144 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Tachypnea, Hepatocellular necrosis, Respiratory arrest, Lethargy |
OMIM:201475 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Bulbar palsy, Distal muscle weakness, Weakness due to upper motor neuron dysfunction, Parkinsonis... |
ORPHA:275872 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto... |
OMIM:617854 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Sudden episodic apnea, Kyphoscoliosis, Scissor gait, Bradykinesia, Dystonia,... |
ORPHA:466722 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, External op... |
ORPHA:485421 |
49,Xxxyy Syndrome |
|
Low-set, posteriorly rotated ears, Eunuchoid habitus, External genital hypoplasia, Abnormality of... |
ORPHA:261534 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture,... |
OMIM:610758 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased circulating IgG level, Decreased ... |
OMIM:300861 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Mic... |
OMIM:614129 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Spastic tetraplegia, Knee flexi... |
ORPHA:371364 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Tachypnea, Delayed skeletal maturation, Pulmonary arterial hypertension... |
OMIM:614857 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral myelinated nerve fib... |
OMIM:208920 |
Tangier Disease |
|
Peripheral axonal neuropathy, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, P... |
OMIM:205400 |
Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy, Opisthotonus |
ORPHA:335 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Lethargy |
OMIM:614299 |
Cdkl5-Deficiency Disorder |
|
Poor head control, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Difficulty wal... |
ORPHA:505652 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Short stature, Tongue fasciculations, Akinesia |
OMIM:618822 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis |
OMIM:619183 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetra... |
OMIM:105550 |
Leukodystrophy, Hypomyelinating, 3 |
|
Joint contracture, Failure to thrive, Lower limb amyotrophy, Kyphoscoliosis |
OMIM:260600 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Clo... |
ORPHA:370959 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Spasticity, Fasciculations |
OMIM:614808 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:48431 |
Valinemia |
|
Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Cerebral palsy, Hypotonia, Opisthotonus, Generalized hypotonia |
OMIM:210210 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Decreased number of ... |
OMIM:270550 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ... |
ORPHA:171629 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Kyphoscoliosis, Tremor, Obesity, Shuffling gait |
ORPHA:3077 |
Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Ataxia, Proximal muscle weakness, Trem... |
OMIM:164310 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Failure to thrive, Distal muscle weakness, Ataxia, Fac... |
ORPHA:456312 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,... |
OMIM:238970 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost... |
OMIM:614856 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Delayed periphe... |
ORPHA:464282 |
Adenohypophysitis |
|
Orthostatic hypotension, Decreased circulating cortisol level, Decreased female libido, Reduced c... |
ORPHA:95512 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Posteriorly rotated ears, Hypospadias, Microcephaly, Broad skull, Cryptorchid... |
ORPHA:163979 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Kyphosis, B... |
ORPHA:88644 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... |
ORPHA:2821 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph... |
OMIM:613561 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Elbow flexion contracture, Facial palsy, Camptodactyly, Opisthotonus |
OMIM:272430 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Short stature, Myopathy, Gait disturbance |
ORPHA:85329 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... |
OMIM:254210 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi... |
ORPHA:1159 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Poor head control, Respiratory insufficiency due to muscle weakness, Flexion contracture, Muscula... |
OMIM:615249 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Congenital sensorineural hearing impairment, O... |
ORPHA:1187 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abnormal pyramidal sign,... |
ORPHA:309162 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, Increased variability... |
ORPHA:502423 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Joint... |
ORPHA:85293 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Abnormality of the musculature of th... |
ORPHA:3327 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Myopathy, Short stature |
ORPHA:166002 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy, Flexion contracture, Kyphoscoliosis |
OMIM:617105 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Perrault Syndrome 1 |
|
Ataxia, Increased circulating gonadotropin level, Sensorineural hearing impairment, Primary ameno... |
OMIM:233400 |
Leber Optic Atrophy |
|
Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Myopathy, Dystonia |
OMIM:535000 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy |
ORPHA:352447 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance |
ORPHA:98934 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Myoclonus, Dysmetria |
OMIM:618251 |
Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Spinal cord posterior columns myelin loss,... |
ORPHA:98756 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, CNS hypomyelination, Myopathy, Weakness of fac... |
OMIM:616239 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Kyphoscoliosis, Recurrent pneumonia, Flexion contra... |
OMIM:214150 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Delayed CNS myelination, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dyston... |
OMIM:617493 |
Dpm1-Cdg |
|
Ataxia, Delayed myelination, Optic atrophy, Knee flexion contracture, Muscular dystrophy, Camptod... |
ORPHA:79322 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Paraparesis, Rigidity, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Fasciculations |
OMIM:619141 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Asthma, Short Stature, And Elevated Iga |
|
Short stature, Increased circulating IgA level |
OMIM:208600 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Peroneal muscle weakness, Optic neu... |
ORPHA:101076 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Failure to thrive, Osteoporosis, Kyphoscoliosis |
OMIM:614727 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... |
ORPHA:99947 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Small for gestational age, Pneumonia, Epis... |
ORPHA:26793 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Pe... |
ORPHA:93921 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Ck Syndrome |
|
Lumbar hyperlordosis, Slender build, Joint hypermobility, Kyphoscoliosis |
ORPHA:251383 |
Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy |
OMIM:232400 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti... |
ORPHA:77297 |
Charcot-Marie-Tooth Disease Type 1E |
|
Foot dorsiflexor weakness, Peroneal muscle weakness, Impaired temperature sensation, Decreased ne... |
ORPHA:90658 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Distal amyotrophy, Gait disturbance, Distal lower limb muscle weakness, Pr... |
OMIM:612020 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Ataxia, Kyphoscoliosis, Inability to walk, Macroglossia, Scoliosis, Camptodactyly |
OMIM:616354 |
Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Spinal rigidity, Proximal ... |
OMIM:616720 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Distal muscle weakness, Multiple joint contractures, Babinski sign, Dysmetria, Gait ataxia, Progr... |
ORPHA:504476 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral hei... |
OMIM:616817 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... |
ORPHA:368 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... |
OMIM:612016 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia |
OMIM:619862 |
Dk1-Cdg |
|
Progressive muscle weakness, Failure to thrive |
ORPHA:91131 |
Lissencephaly Due To Lis1 Mutation |
|
Axial hypotonia, Tetraplegia, Opisthotonus, Progressive spastic quadriplegia, Neonatal hypotonia |
ORPHA:95232 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Hypoesthesia, Ragged-red ... |
OMIM:603041 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Optic atrophy, Impaired proprioception, Dysmetria, Ophthalmoparesis, Progressive cerebell... |
ORPHA:98755 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial palsy, Spinal rigidi... |
OMIM:615084 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Ataxia |
OMIM:300653 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Paraparesis, Rigidity, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Patent ductus... |
OMIM:121050 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Diabetes mellitus, Chorea, Optic atrophy, Impaired pro... |
ORPHA:95 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Babinski sign, Abnormal pyramidal sign, Distal amyotrophy... |
OMIM:602099 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Hypertonia, Opisthotonus |
ORPHA:3304 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Truncal ataxia, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar atax... |
ORPHA:284289 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Dystonia, Periphe... |
OMIM:250100 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Ataxia, Myoclonus, Intention tremor |
OMIM:618876 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Hemiplegia/hemipare... |
ORPHA:183 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Distal muscle weakness, Impaired temperature sensation, Decreased amplitude o... |
ORPHA:36386 |
Developmental And Epileptic Encephalopathy 109 |
|
Delayed CNS myelination, Gait ataxia, Myoclonus, Left ventricular hypertrophy, Spasticity, Failur... |
OMIM:620145 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Skin rash, Pustule, Pustular rash, Malar rash |
OMIM:615934 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Ataxia, Tremor, Abnormal form of the vertebral bodies, Gait disturbanc... |
ORPHA:475 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Abnormal pinna mo... |
ORPHA:477817 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... |
OMIM:611890 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Short stature |
OMIM:610798 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Sensory ataxia, Gait... |
OMIM:616192 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Muscle weakness |
ORPHA:99867 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia, Joint stiffness |
ORPHA:3242 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Fle... |
OMIM:609541 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... |
OMIM:614153 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Small for gestational age, Oculogyric crisis, Kyphoscoliosis, Leg dystonia,... |
OMIM:607371 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at... |
OMIM:183090 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Pontocerebellar Hypoplasia, Type 1E |
|
Elbow flexion contracture, Optic atrophy, Myoclonus, Knee flexion contracture |
OMIM:619303 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... |
ORPHA:2203 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Short neck, Wrist flexion contracture, Abnormally ossified verteb... |
ORPHA:800 |
Atrial Standstill |
|
Skeletal muscle atrophy, Dyspnea, Flexion contracture, Left ventricular noncompaction, Muscular d... |
ORPHA:1344 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Slurred speech, Ophthalmo... |
ORPHA:1349 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test... |
ORPHA:529962 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... |
ORPHA:79240 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Poor head control, Microcephaly, Decreased nerve conduction velocity, Cryptorc... |
ORPHA:565624 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Increased circulating IgE level, Short stature, Scoliosis |
ORPHA:1858 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Delayed CNS myelination, Flexion contracture |
OMIM:620240 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign, Facial myokymia, O... |
OMIM:608703 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy |
OMIM:618234 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Opisthotonus |
OMIM:619685 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Atheto... |
OMIM:618218 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity |
OMIM:617829 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Tremor, Respiratory insufficiency, Weight los... |
OMIM:168605 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... |
OMIM:255125 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,... |
OMIM:308240 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Hip contracture, Flexion contracture of finger, Failure to thrive, Small for g... |
OMIM:193700 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi... |
ORPHA:401866 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Allodynia, Peripheral demyelination |
ORPHA:221091 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Muscle-Eye-Brain Disease |
|
Myopathy, Hypertonia, Gait disturbance, Hemiplegia/hemiparesis |
ORPHA:588 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Rhabdomyolysis, Muscle weakness, Periodic paralysis |
OMIM:188580 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis |
OMIM:617591 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea, Scoliosis |
OMIM:612285 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive |
OMIM:618201 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Chorea, Babin... |
OMIM:617282 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Microcephaly, Decreased nerve conduction velocity, Sensorineural hearing impairment, Opti... |
OMIM:610651 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Ataxia, Premature ovarian insufficiency, Microcephaly, Increased circulating gonado... |
ORPHA:243 |
Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Interosseus muscle atrophy, Fasciculations |
OMIM:602440 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized... |
OMIM:233910 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight |
OMIM:618392 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture, Kyphoscoliosis |
OMIM:612079 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Poor head control, Ataxia, Facial palsy, Optic atrophy... |
OMIM:608804 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural h... |
OMIM:618733 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Back pain, Kyphoscoliosis, Cervical spondylosis, Gait disturbance, Localized oste... |
ORPHA:199354 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypothyroidism, Microcep... |
OMIM:619851 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea, Lethargy |
ORPHA:3282 |
O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Cold paresis, Intrinsic hand muscle atrophy, Upper limb muscle weakness, In... |
ORPHA:99965 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Clumsiness, Facial diplegia, Steppage gait, Fasciculations, Freq... |
ORPHA:521411 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Anhidrosis, Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Hypohidr... |
OMIM:243000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Ataxia, Gait ataxia |
OMIM:613077 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasciculati... |
OMIM:105400 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Osteoporosis, Joint hypermobility, Kyphoscoliosis |
OMIM:600118 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Adr... |
OMIM:614863 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, Dysmetria, Gait atax... |
OMIM:603516 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... |
ORPHA:139578 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca |
ORPHA:809 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Bilater... |
ORPHA:309256 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Myopathy, Rhabdomyolysis, Ataxia |
ORPHA:713 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Kyphosis, Abnormal pyramidal sign, Gait ataxi... |
ORPHA:500180 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy |
OMIM:616538 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Weill-Marchesani Syndrome 2 |
|
Thickened helices, Broad skull, Brachycephaly |
OMIM:608328 |
Joubert Syndrome 18 |
|
Joint laxity, Trident pelvis, Kyphoscoliosis, Camptodactyly |
OMIM:614815 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... |
ORPHA:314632 |
Angiostrongyliasis |
|
Distal muscle weakness, Increased circulating IgA level, Increased circulating specific IgE antib... |
ORPHA:74 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Ophthalmoplegia, Poor coordination, Slurred speech, Limb ataxia, Cogwhe... |
ORPHA:98772 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor |
ORPHA:477774 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... |
OMIM:300232 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Distal muscle weakness, Pr... |
OMIM:256810 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo... |
ORPHA:391417 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Leukodystrophy... |
OMIM:169500 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss |
ORPHA:1979 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,... |
OMIM:615349 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Spasticity |
OMIM:617065 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Proximal muscle weakness, Ragged-re... |
ORPHA:70595 |
Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber si... |
ORPHA:168572 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Babinski sign, CNS hypomyelination, Hyperkinetic movements, Leukodystrop... |
OMIM:616420 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations |
OMIM:313200 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... |
OMIM:616881 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Camptodactyly of finger, Joint stiffness, Flexion contracture, Congeni... |
ORPHA:115 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus |
OMIM:608105 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Hemiparesis, Myopathy, Gai... |
ORPHA:98673 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Joint Laxity, Short Stature, And Myopia |
|
Joint hypermobility, Multiple joint dislocation, Cervical kyphosis, Kyphoscoliosis |
OMIM:617662 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... |
OMIM:618944 |
Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity, Gait ataxia, Distal sensory impairment, Failure to thrive, H... |
OMIM:616652 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Increased circulating IgM level, Short stature, Decreased circulating IgA level |
OMIM:242860 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Progressive proximal muscle weakness, Obesity, Myopathy, Shoulder girdle muscle weakness,... |
ORPHA:98907 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavio... |
ORPHA:1020 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, Failure to thrive, Muscular dystrophy, CNS hypomyelination |
ORPHA:88618 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age |
ORPHA:85288 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Anhidrosis, Decreased nerve conduction ve... |
OMIM:201300 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Vertebral wed... |
OMIM:610968 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Tremor, Inability to walk,... |
OMIM:128100 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Tip-toe gait, Spastic gait |
ORPHA:447760 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Progressive muscle weakness, Increased ... |
ORPHA:264580 |
Pontocerebellar Hypoplasia Type 4 |
|
Arthrogryposis multiplex congenita, Hypertonia, Myoclonus |
ORPHA:166063 |
Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Oculomotor apraxia, Frequent fal... |
OMIM:615217 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypotonia, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonic spasms |
OMIM:252160 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Muscle weakness |
ORPHA:87876 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Recurrent fractures, Dyspnea, Tachypnea, Failure to thrive |
OMIM:239200 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the endocrine system, Broad skull, Abnormality of the m... |
ORPHA:228123 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Respiratory ins... |
ORPHA:365 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:209950 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation |
OMIM:256731 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Small for gestational age, Patent ductus arteriosus, Tachypnea, Hypoxemia, Failure to thrive, Rig... |
ORPHA:860 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Macrocep... |
ORPHA:8 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst... |
OMIM:613150 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Idiopathic Achalasia |
|
Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough |
ORPHA:930 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia,... |
OMIM:617435 |
Activated Pi3K-Delta Syndrome |
|
Increased circulating IgM level, Decreased circulating antibody level |
ORPHA:397596 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Gangliocytoma |
|
Distal muscle weakness, Decreased female libido, Pituitary null cell adenoma, Elevated circulatin... |
ORPHA:251937 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Flexion contracture, Ataxia, Myoclonus |
OMIM:256730 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive |
ORPHA:412035 |
Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture, Fasciculations |
OMIM:601003 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Plagiocephaly, Hypoplasia of the semicircular canal, Low-set ears, Mac... |
ORPHA:251061 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... |
OMIM:615905 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Opisthotonus, Muscular dystrophy, Arthrogryposis mu... |
ORPHA:2671 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Myoc... |
ORPHA:442835 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Episodic tachypnea |
OMIM:615160 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls |
OMIM:301020 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Inability to walk, Hyperkinetic movements, Myoclonus |
OMIM:618497 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Bilateral sensorineu... |
ORPHA:309263 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... |
ORPHA:2552 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sign, Flexion contractu... |
OMIM:615491 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Abnormal muscle tone, Myoclonic spasms |
OMIM:252150 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Growth delay, Increased circulating IgM level, Decreased circulating IgG level, De... |
OMIM:616005 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Optic atrophy, Brachycephaly, Multiple suture craniosynostosis, Co... |
ORPHA:207 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Arthritis, Muscle weakness |
ORPHA:93672 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Diaphragmatic eventration, Kyphoscoliosis |
OMIM:617808 |
Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... |
OMIM:605259 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Fatigable weakness, Periodic paralysis |
OMIM:614198 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:230800 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Thoracolumbar scoliosis, Increased circulating IgE level, Macroglossia, Scoliosis, Joint contract... |
OMIM:618523 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Flexion contracture, Joint hyperflexibility |
ORPHA:75496 |
Joubert Syndrome With Oculorenal Defect |
|
Scoliosis, Tachypnea, Apnea, Ataxia |
ORPHA:2318 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity |
OMIM:614254 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... |
OMIM:616866 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Slender build, Limb tremor, Myoclonus |
OMIM:300699 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Sensorineural hearing impairment |
ORPHA:93476 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Apert Syndrome |
|
Frontal bossing, Cloverleaf skull, Sensorineural hearing impairment, Optic atrophy, Abnormal semi... |
ORPHA:87 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Wide cranial sutures, Interphalangeal joint contracture of finger, A... |
OMIM:259600 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Athetosis, Joint hyperflexibility, Dystonia |
ORPHA:52503 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Diaph... |
OMIM:606071 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Diastasis recti, Short neck, Inability to walk, Progressive muscle weakn... |
ORPHA:488632 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Bilateral se... |
ORPHA:309271 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Joint laxity, Torticollis, Thoracic scoliosis, Kyphoscoliosis, Inability to walk,... |
ORPHA:300570 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Failure to thrive, Optic atrophy, Myoclonus |
OMIM:609056 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Muscular dystrophy |
OMIM:300200 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Thoracolumbar scoliosis, Kyphoscoliosis, Recurrent shoulder d... |
ORPHA:230851 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Delayed skeletal maturation, Obesi... |
ORPHA:813 |
Lassa Fever |
|
Back pain, Increased circulating IgM level, Muscle weakness |
ORPHA:99824 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Titubation, Abnorma... |
ORPHA:280210 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic... |
ORPHA:255210 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:618459 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislo... |
OMIM:616507 |
Immunodeficiency, Common Variable, 11 |
|
Growth delay, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Rahman Syndrome |
|
Accelerated skeletal maturation, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations |
OMIM:616437 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Hypertonia, Myoclonus, Spasticity |
OMIM:225753 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br... |
OMIM:607136 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Postnatal growth retardation, Increased circulating IgE level, Short stature, Delayed puberty |
OMIM:618985 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... |
OMIM:231070 |
Anauxetic Dysplasia 2 |
|
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Hip dislocation, Spastic gait, Kyphoscoliosis |
ORPHA:101003 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Paralysis, Fatigable weakness of bulbar muscles, Generalized muscle weak... |
ORPHA:803 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy |
ORPHA:1969 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Arthrogryposis Multiplex Congenita 5 |
|
Neonatal respiratory distress, Akinesia, Short neck, Kyphoscoliosis, Flexion contracture, Elbow f... |
OMIM:618947 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Distal amyotrophy, Hy... |
OMIM:616505 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276241 |
Weill-Marchesani Syndrome 1 |
|
Broad skull, Brachycephaly |
OMIM:277600 |
Serotonin Syndrome |
|
Tremor, Tachypnea, Rhabdomyolysis |
ORPHA:43116 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... |
ORPHA:300385 |
Narp Syndrome |
|
Short stature, Ataxia, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Abnormal mitocho... |
ORPHA:644 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Broad-based gait, Small for gestational age, Kyphoscoliosis, Short neck, Scoliosis,... |
ORPHA:391408 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Redu... |
OMIM:613038 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Multiple joint dislocation, Repeat... |
ORPHA:536467 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Kyphoscoliosis, Inability to walk, Flexion contracture, Ankle clonus |
OMIM:614222 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Cerebral hypomyelination, Increased variability in muscle fiber diameter, Type 1 muscle fiber pre... |
OMIM:612949 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Growth delay, Increased circulating IgG level, Increased circulating IgE level, Decreased circula... |
OMIM:243700 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Diabetes mellitus, Ataxia, Optic atrophy, Impaired proprioception, ... |
OMIM:229300 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Cockayne Syndrome B |
|
Anhidrosis, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Microcephaly,... |
OMIM:133540 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Delayed myelination, CNS hypomyelination, Myopathy, Myoclonus, Tongue fasciculations |
OMIM:614922 |
Tetrasomy 12P |
|
Joint hyperflexibility, Delayed skeletal maturation, Cachexia, Short neck |
ORPHA:884 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... |
ORPHA:32960 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Delayed CNS myelination, Ataxia, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Generalized mu... |
ORPHA:399 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Spasticity, Gait disturbance, Scoliosis |
ORPHA:2429 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Cervical spondylosis, Abnormal lumbar spine morphology, Herniati... |
ORPHA:101005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Myopathy, Lethargy, Limb dystonia, Increased variability in muscle fiber di... |
OMIM:604377 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Developmental And Epileptic Encephalopathy 72 |
|
Delayed CNS myelination, Hyperkinetic movements |
OMIM:618374 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Ataxia, Orchitis, Retrobulbar opti... |
ORPHA:117 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Thyroid hypoplasia, Hyp... |
ORPHA:226307 |
Chanarin-Dorfman Syndrome |
|
Myopathy, Ataxia |
OMIM:275630 |
Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... |
ORPHA:101150 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambu... |
OMIM:620089 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ... |
ORPHA:1328 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Camptodactyly of finger, Kyphoscoliosis |
OMIM:610756 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Short stature, Myoclonus, Ataxia |
OMIM:612015 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Intrauterine growth retardation, Severe short stature, Decreased... |
ORPHA:2643 |
Cockayne Syndrome A |
|
Anhidrosis, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Microcephaly,... |
OMIM:216400 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakne... |
ORPHA:98915 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:619317 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Small for gestational age, Kyphosis, Congenital contracture, Hypertonia, Joint co... |
ORPHA:352490 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis |
OMIM:176920 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Scoliosis |
ORPHA:2058 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Brachyce... |
OMIM:615663 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Axial hypotonia, Elbow flexion contracture, Hypotonia, Opisthotonus, Hypertonia, Generalized hypo... |
ORPHA:508533 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Chilblains, Tremor, Hemi... |
ORPHA:51 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... |
OMIM:305400 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Neck muscle hypertrophy, Unsteady gait, Limb tremor, Myoclonus, Head tremor, Difficu... |
ORPHA:420492 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Short stature, Loss of ability to walk in early childhood, Inability to ... |
OMIM:612073 |
Riddle Syndrome |
|
Decreased circulating IgG level, Short stature |
OMIM:611943 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
D-Bifunctional Protein Deficiency |
|
Frontal bossing, Decreased nerve conduction velocity, Scaphocephaly, Primary adrenal insufficienc... |
OMIM:261515 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Inability to walk, Contractures of the large joints, Steppage gait, Kyphoscoliosis |
ORPHA:324410 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level |
OMIM:618048 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Short stature |
OMIM:615139 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... |
OMIM:619725 |
Sengers Syndrome |
|
Growth delay, Myopathy |
OMIM:212350 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:613500 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive |
OMIM:615595 |
Gaucher Disease, Perinatal Lethal |
|
Arthrogryposis multiplex congenita, Opisthotonus |
OMIM:608013 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Primary microcephaly |
OMIM:617523 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial ne... |
ORPHA:228302 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of... |
ORPHA:2962 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic ... |
ORPHA:96170 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Brachycephaly, Abnormal auditory evoked potentials, Macrocephaly |
OMIM:109120 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Short neck |
ORPHA:1438 |
Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... |
OMIM:109150 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Schindler Disease, Type I |
|
Spasticity, Optic atrophy, Generalized amyotrophy, Myoclonus |
OMIM:609241 |
Igg4-Related Aortitis |
|
Low back pain, Increased circulating IgG4 level, Increased circulating IgE level, Increased circu... |
ORPHA:449400 |
Warsaw Breakage Syndrome |
|
Microcephaly, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impairment |
OMIM:613398 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respiratory insufficiency, Platyspo... |
ORPHA:2771 |
Developmental And Epileptic Encephalopathy 54 |
|
Delayed myelination, Myoclonus |
OMIM:617391 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Spastic tetrapar... |
ORPHA:284417 |
Adrenoleukodystrophy |
|
Bulbar palsy, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Trunc... |
OMIM:300100 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Short neck, Delayed epiphyseal ossificati... |
OMIM:156550 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypertonia, Myoclonus |
OMIM:610090 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Poliomyelitis |
|
Skeletal muscle atrophy, Bulbar palsy, Lower limb muscle weakness, Hypoplasia of the musculature,... |
ORPHA:2912 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Pontocerebellar Hypoplasia, Type 1D |
|
Multiple joint contractures, Flexion contracture, Generalized amyotrophy, Tongue fasciculations, ... |
OMIM:618065 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Limb myoclonus, Lower limb muscle weakness, Abnormality of extrapyramidal motor function, Gait at... |
ORPHA:356 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Spinal rigidity, Flexion contracture, Resp... |
OMIM:253800 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Beta-Ketothiolase Deficiency |
|
Weight loss, Tachypnea, Ataxia, Cough |
ORPHA:134 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Tachypnea, Abnormality of mas... |
ORPHA:423 |
Dystonia 34, Myoclonic |
|
Torticollis, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor |
OMIM:619724 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Arthrogryposis multip... |
OMIM:615834 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Tremor, EMG: myopathic abnormalities, Short stature |
ORPHA:457365 |
Zika Virus Disease |
|
Intrauterine growth retardation, Increased circulating IgM level |
ORPHA:448237 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... |
ORPHA:254892 |
Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Kyphoscoliosis, Patent ductus arteriosu... |
ORPHA:397709 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... |
ORPHA:88628 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
Scholte Syndrome |
|
Kyphoscoliosis, Patellar hypoplasia |
OMIM:300977 |
Cystinosis |
|
Short stature, Abnormal pyramidal sign, Myopathy, Gait disturbance, Delayed puberty |
ORPHA:213 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Delayed CNS myelination, Hyperkinetic movements, Ataxia |
OMIM:271980 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... |
ORPHA:35173 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Decreased circulating total IgM, Decreased circulating IgG level, S... |
OMIM:620210 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait at... |
OMIM:618877 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis |
ORPHA:764 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Apnea, Tachypnea, Early ossifica... |
ORPHA:397715 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,... |
ORPHA:97349 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low... |
OMIM:162210 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia |
ORPHA:725 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Weakness of facial musculature |
OMIM:201470 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Keppen-Lubinsky Syndrome |
|
Hypertonia, Flexion contracture, Spastic tetraparesis, Opisthotonus |
OMIM:614098 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosis, Craniosyno... |
ORPHA:2953 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Spastic paraparesis, Limb muscle wea... |
ORPHA:363722 |
Polymyositis |
|
Abnormal muscle fiber morphology, Respiratory insufficiency, Weight loss, Arthritis, Gait disturb... |
ORPHA:732 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Small for gestational age, Tachypnea, Hypoxem... |
ORPHA:555874 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Shor... |
ORPHA:457395 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Mcleod Syndrome |
|
Chorea, Rhabdomyolysis, Myopathy, Dystonia, Motor axonal neuropathy |
OMIM:300842 |
Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Delayed myelination, Optic atrophy, Athetosis, Myoclonus |
OMIM:618241 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Ataxia-Telangiectasia-Like Disorder |
|
Short stature, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor ... |
ORPHA:251347 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... |
OMIM:620282 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Carpenter Syndrome |
|
Craniosynostosis, Kyphoscoliosis, Patent ductus arteriosus, Obesity, Genu valgum |
ORPHA:65759 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystroph... |
ORPHA:899 |
Acrootoocular Syndrome |
|
Small hypothenar eminence, Small for gestational age, Kyphoscoliosis, Delayed skeletal maturation... |
ORPHA:2980 |
Carcinoid Syndrome |
|
Pulmonary carcinoid tumor, Myopathy, Small intestine carcinoid, Paraganglioma, Intestinal carcino... |
ORPHA:100093 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Short stature, Ataxia, Tremor, Inability to walk, Chorea, Athetosi... |
OMIM:615356 |
Microcephaly, Amish Type |
|
Flexion contracture, Optic atrophy, Myoclonus, Failure to thrive, Limb hypertonia |
OMIM:607196 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... |
OMIM:619824 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
Ethylene Glycol Poisoning |
|
Ataxia, Facial palsy, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis... |
ORPHA:31826 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Ataxia, Tachypnea, Weight loss, Lethargy |
ORPHA:20 |
Myotonic Dystrophy 2 |
|
Neck flexor weakness, Proximal muscle weakness, Decreased circulating total IgM, Generalized amyo... |
OMIM:602668 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Cachexia, Myopathy, Scoliosis, Muscle we... |
ORPHA:109 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Multiple Sulfatase Deficiency |
|
CNS demyelination, Spasticity, Ataxia, Peripheral demyelination |
OMIM:272200 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, ... |
ORPHA:457359 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, Decreased ci... |
OMIM:614069 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Kyphoscoliosis |
OMIM:615541 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Myoclonus, Limb dystonia, ... |
ORPHA:508093 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... |
OMIM:615816 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Wilson Disease |
|
Back pain, Bone pain, Increased body weight, Weight loss, Proximal muscle weakness in lower limbs... |
ORPHA:905 |
Biotinidase Deficiency |
|
Lethargy, Tachypnea, Apnea, Ataxia |
OMIM:253260 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the... |
ORPHA:2461 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis |
OMIM:300915 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Hyperlordosis, Ophthalmo... |
ORPHA:3068 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Broad-based gait, Recurrent fract... |
OMIM:309583 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... |
OMIM:606002 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... |
OMIM:314580 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... |
OMIM:234200 |
Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Left ventricular ... |
ORPHA:99106 |
Aredyld Syndrome |
|
Cachexia, Scoliosis |
ORPHA:1133 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Nmda Receptor Encephalitis |
|
Oculogyric crisis, Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo... |
ORPHA:217253 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276244 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Ragged-red muscle fibers, Facial palsy, Muscle weakness |
OMIM:606407 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... |
ORPHA:142 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
CNS demyelination, Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
East Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Peripheral hypomyelination, Lower limb muscle weakness, Act... |
ORPHA:199343 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Decreased nerve conduction velocity, Sensorineural hearing impairment,... |
ORPHA:580 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Generalized limb muscle atrophy... |
ORPHA:2822 |
Immunodeficiency 9 |
|
Myopathy, Difficulty walking |
OMIM:612782 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Chorea, Opti... |
ORPHA:506 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis, Pulsatile tinnitus |
OMIM:601650 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Vertebr... |
OMIM:611209 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Spinocerebellar Ataxia 34 |
|
Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiado... |
OMIM:133190 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scoliosis, Biconcave vertebral bodies... |
OMIM:236200 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Flat occiput, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, ... |
ORPHA:2232 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Small for gestational age, Optic atrophy, Myoclonus, Rigidity |
OMIM:619057 |
Keppen-Lubinsky Syndrome |
|
Hypertonia, Flexion contracture, Spastic tetraparesis, Opisthotonus |
ORPHA:435628 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Joint contracture, Failure... |
OMIM:618005 |
Larsen-Like Syndrome |
|
Joint laxity, Delayed skeletal maturation, Joint dislocation, Kyphoscoliosis |
OMIM:608545 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Genu varum, W... |
ORPHA:93314 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Myoclonic sp... |
OMIM:614498 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Tremor, Tachypnea, Tip-toe gait, Dystonia, Failure to thrive, Abnormal pattern of respira... |
ORPHA:3008 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Hypercapnia, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexi... |
OMIM:255995 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus |
OMIM:204200 |
Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Sensorineural heari... |
ORPHA:649 |
Caffey Disease |
|
Increased circulating antibody level, Scoliosis |
ORPHA:1310 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis |
OMIM:301900 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Muscle weakness, Cachexia |
OMIM:175500 |
Coronary Arterial Fistula |
|
Orthopnea, Patent ductus arteriosus, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Neoplasm of the gal... |
ORPHA:512 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, Patent du... |
ORPHA:354 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Macrocephaly, Conduct... |
ORPHA:217085 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Decreased muscle mass, Thoracic scoliosis, Distal joint laxity, Ge... |
ORPHA:1900 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance, Failure to thrive |
ORPHA:2754 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Kyphosis, Ophthalmoplegia, Distal arthrogryposis, Firm muscles, Hypertonia... |
OMIM:108145 |
Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Metopic synostosis, Failure to thrive, Neonatal breath... |
OMIM:608091 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Small for gestational age, Delayed skeletal maturation, Tachypnea, Rick... |
OMIM:613658 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level |
OMIM:618495 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor head control, Abnormal social behavior, Obesity |
ORPHA:444002 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... |
OMIM:300957 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Tachypnea, Hyperventilation |
OMIM:253270 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Small for gestational age, Myoclonus, Abnormal myelination |
ORPHA:289266 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Short stature, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, Myocl... |
ORPHA:98768 |
Carnitine Deficiency, Systemic Primary |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
Cocaine Intoxication |
|
Respiratory distress, Tremor, Wheezing, Tachypnea, Pneumothorax, Rhabdomyolysis, Cough, Hypervent... |
ORPHA:90068 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Osteoporosis, Hip dislocation, Pulmonary arterial hypertension, Hip subluxation |
ORPHA:447980 |
Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis |
ORPHA:449285 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Delayed CNS myelination, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenita... |
OMIM:619036 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Clonus, Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than ... |
OMIM:619424 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Rheumatoid Arthritis |
|
Joint stiffness, Weight loss, Joint swelling, Digital flexor tenosynovitis, Polyarticular arthrit... |
OMIM:180300 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Adrenocortica... |
ORPHA:116 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... |
OMIM:614575 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment, Failure to th... |
ORPHA:18 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Patent ductus arteriosus, Flexion contracture, Pulmonary arteria... |
OMIM:608149 |
Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Osteoporosis, Myopathy, Muscular dystrophy, Lethargy, Pathologic fracture |
OMIM:307030 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Growth delay, Increased circulating IgG level, Increased circulating IgA level |
OMIM:617388 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Inability to walk, Kyp... |
OMIM:617988 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Distal muscle weakness, Facial hypotonia, Kyphosis, Babinski sign, Myoclonus,... |
ORPHA:364028 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital kyphoscoliosis, Congenital hip dislocation, Kypho... |
ORPHA:536545 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Joubert Syndrome 1 |
|
Central apnea, Ataxia, Episodic tachypnea, Macroglossia, Neonatal breathing dysregulation |
OMIM:213300 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight... |
ORPHA:79102 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Flexion contracture, Macroglossia, Increased circulating IgM level, Bone marrow hypoc... |
OMIM:617303 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia |
OMIM:619422 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Pneumonia, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, ... |
OMIM:253200 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal mot... |
ORPHA:79279 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Peho Syndrome |
|
Optic atrophy, Myoclonus, Peripheral dysmyelination |
OMIM:260565 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Distal muscle weakness, Facial palsy, Short neck, Kyphosis, Achilles tendon cont... |
OMIM:301041 |
Pseudohypoaldosteronism Type 2 |
|
Muscle weakness, Periodic paralysis |
ORPHA:757 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Spontaneous pneumothorax, Protrusio ac... |
ORPHA:558 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Osteopenia, Kyphoscoliosis, Patent ductus arteriosus, Atl... |
OMIM:614557 |
Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Increased circulating IgG leve... |
ORPHA:297 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen... |
OMIM:256840 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... |
ORPHA:50251 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... |
ORPHA:276 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Bulbar palsy, Ataxia, Facial palsy, Dysesthesia, Ophth... |
ORPHA:79138 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Myo... |
ORPHA:171695 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy |
ORPHA:367 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormality of the vertebral... |
ORPHA:93316 |
Gorham-Stout Disease |
|
Abnormal calvaria morphology, Abnormality of the internal auditory canal, Hearing impairment, Abn... |
ORPHA:73 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Short neck, Patent ductus arteriosus, Abnormality of the elbow, Respiratory in... |
ORPHA:1842 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Protrusio acetabuli, Cachexia, Kyphosis, Osteoarthrit... |
ORPHA:828 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Spastic tetraparesis, Delayed myelination, Optic atrophy, CNS hypomyel... |
OMIM:614261 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... |
OMIM:608747 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Generalized muscle weakness, Thyroiditis, Tubulointerstitial nephritis, Abnormality of ... |
ORPHA:79078 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow internal auditory canal, ... |
ORPHA:990 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:614116 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance |
ORPHA:457240 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea, Progressive cerebellar ataxia, Lethargy, Failure to thrive, Spastic gait |
ORPHA:415 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk in first decade, Hy... |
OMIM:300243 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Flexion contracture, Lumbar kyphosis, Macroglossia, Increased c... |
ORPHA:505248 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Hydranencephaly |
|
Spastic diplegia, Opisthotonus |
ORPHA:2177 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Ataxia,... |
OMIM:308700 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Failure to thrive in infancy, Kyphoscoliosis, Osteoarthr... |
OMIM:615582 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Growth delay, Myopathy, Calf muscle hypertrophy, Spasticity |
ORPHA:261476 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Spasticity, Obesity |
OMIM:619255 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Truncal ataxia, Dysmetria, Myoclonus, Dystonia, Failure to thrive |
OMIM:250620 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Ataxia, Kyphoscoliosis, Inability to walk, Knee flexion contractur... |
ORPHA:488642 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus |
ORPHA:263516 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Leukodystrophy, Decreased body weight, Intention tremor, Ataxia, Overweight, ... |
OMIM:619475 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Abetalipoproteinemia |
|
Osteopenia, Broad-based gait, Failure to thrive, Ataxia, Kyphoscoliosis, Dysmetria, Gait ataxia, ... |
ORPHA:14 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Tremor, Kyphosis, Gait ataxia, Macroglossia, Abdominal obesity |
OMIM:300354 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Macrocephaly, Conduct... |
ORPHA:217093 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Inability to walk, Flexion contracture, Obesity, Scoliosi... |
OMIM:615547 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating total IgM, Scoliosis, Decreased circulatin... |
OMIM:619752 |
Glioblastoma |
|
Muscle weakness, Paralysis |
ORPHA:360 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus, Leukodystrophy |
OMIM:618225 |
Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Muscular dystrophy, Abnormal lymphocyte physiology |
ORPHA:300751 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Kyphoscoliosis, Camptodactyly |
OMIM:614846 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Ataxia, Cryptorchidism, Optic atrophy, Hy... |
ORPHA:90321 |
Schinzel-Giedion Syndrome |
|
Frontal bossing, Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Hypospadias, Fai... |
ORPHA:798 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Ataxia, Myoclonus, Chronic axonal neuropathy, Failure to thrive |
ORPHA:95428 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Increased circulating IgE level, Fl... |
ORPHA:3409 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Poor head control, Spastic tetraparesis, Ophthalmoplegia, Babinski sign, Ragged-red muscle fibers... |
OMIM:614924 |
Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
Multiple Myeloma |
|
Increased circulating IgA level, Generalized muscle weakness, Decreased circulating antibody leve... |
ORPHA:29073 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Lennox-Gastaut Syndrome |
|
Falls, Myoclonus |
ORPHA:2382 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis |
ORPHA:228305 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Laryngeal dysto... |
ORPHA:2388 |
Double Outlet Right Ventricle |
|
Failure to thrive, Tachypnea |
ORPHA:3426 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Ataxia, CNS hypomyelination, Macroglossia,... |
OMIM:268800 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Kyphoscoliosis, Short neck, Punctate vertebral calcifications, Hemivertebrae, Epiphyseal stipplin... |
OMIM:302960 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
Cholera |
|
Lethargy, Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Sensorineural hearing impairment |
ORPHA:93474 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Opti... |
ORPHA:909 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
Fucosidosis |
|
Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o... |
ORPHA:349 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:241600 |
Multiple Sulfatase Deficiency |
|
Microcephaly, Sensorineural hearing impairment, Optic atrophy, Macrocephaly, Abnormality of perip... |
ORPHA:585 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Ankle swelling, Joint stiffness, Knee osteoarthritis, Flexion cont... |
ORPHA:85408 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Immunodeficiency 96 |
|
Growth delay, Decreased circulating total IgM, Defective T cell proliferation, Decreased circulat... |
OMIM:619774 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Gait disturbance, Hyperkinetic movements |
OMIM:236270 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis |
OMIM:300886 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Increased intervertebral space, Restrictive vent... |
OMIM:607944 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Benign Schwannoma |
|
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... |
ORPHA:252164 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Seckel Syndrome |
|
Cachexia, Craniosynostosis, Delayed skeletal maturation, Joint hyperflexibility, Scoliosis |
ORPHA:808 |
Saethre-Chotzen Syndrome |
|
Craniosynostosis, Prominent crus of helix, External ear malformation, Sensorineural hearing impai... |
ORPHA:794 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Delayed skeletal maturation, Genu valgum, Platy... |
OMIM:271510 |
Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy... |
OMIM:271640 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor weakness |
OMIM:169400 |
Rift Valley Fever |
|
Back pain, Increased circulating IgG level, Increased circulating IgM level, Muscle weakness |
ORPHA:319251 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Apnea, Patent ductus arteriosus, Flexion contractu... |
ORPHA:17 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Dystonia, Fai... |
OMIM:618278 |
Xfe Progeroid Syndrome |
|
Cachexia, Failure to thrive, Poor coordination, Scoliosis |
OMIM:610965 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Large sternal ossification centers, Accelerated skeletal maturation, T... |
OMIM:602535 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Exertional dyspnea |
ORPHA:100083 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Lower limb muscle weakness... |
ORPHA:845 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Intrauterine growth retardation, EMG: myopathic abnormalities |
OMIM:620326 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Patent ductus arteriosus, Tall lumbar verte... |
OMIM:102500 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Internal ophthalmoplegia, Decreased fe... |
ORPHA:2965 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Abnormal myelination |
ORPHA:352682 |
Monosomy 18P |
|
Generalized dystonia, Kyphoscoliosis, Short neck |
ORPHA:1598 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Lamb-Shaffer Syndrome |
|
Ataxia, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis, Abnormal social behavior |
ORPHA:530983 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... |
OMIM:601701 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, H... |
OMIM:222300 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Short stature, Slurred speech, Dysmetria, Myoclonus |
OMIM:256550 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
Trisomy 10P |
|
Frontal bossing, Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnorma... |
ORPHA:171929 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis |
ORPHA:1545 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Ataxia, Muscle weakness |
OMIM:530000 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Pseudoachondroplasia |
|
Waddling gait, Skeletal myopathy, Disproportionate short-limb short stature |
ORPHA:750 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Failure to thrive, Rhabdomyolysis, Small for gestational age |
OMIM:609015 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Crackles, Rhabdomyolysis, Tachypnea, Hypocapnia, Lethargy |
ORPHA:466650 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Basilar Impression, Primary |
|
Limb muscle weakness, Kyphoscoliosis, Short neck |
OMIM:109500 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Ataxia, Hypogonadotrop... |
OMIM:308750 |
Melas |
|
Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Ragged-red muscle fibers, ... |
ORPHA:550 |
Classic Hodgkin Lymphoma |
|
Ataxia, Bone pain, Osteolysis, Respiratory insufficiency, Weight loss, Cough |
ORPHA:391 |
Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dens... |
OMIM:252930 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Muscle weakness, Foot dorsiflexor weakness |
OMIM:214500 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Increased circulating IgA level |
OMIM:617099 |
Monosomy 18Q |
|
Kyphoscoliosis, Patent ductus arteriosus, Delayed skeletal maturation, Choreoathetosis, Atlantoax... |
ORPHA:1600 |
Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Diastasis recti, Kyphoscoliosis, Large for ge... |
ORPHA:254519 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Aplasia of the semicircular can... |
ORPHA:648 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... |
ORPHA:263297 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... |
ORPHA:1358 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Kyphosc... |
ORPHA:536532 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Bone pain, Kyphoscoliosis |
ORPHA:53721 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Facial palsy |
OMIM:182410 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Delayed myelination, Chorea, Progressive cerebellar ataxia, Upper limb spa... |
ORPHA:485350 |
Scorpion Envenomation |
|
Ataxia, Tremor, Tachypnea, Rhabdomyolysis, Abnormal nasal mucus secretion |
ORPHA:466677 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Microcephaly |
OMIM:617660 |
Dystonia-Aphonia Syndrome |
|
Generalized dystonia, Macroglossia, Myoclonus, Oromandibular dystonia, Mixed demyelinating and ax... |
ORPHA:412217 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia |
OMIM:312170 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Optic disc pallor, Somatic sensory dysfunction, ... |
ORPHA:191 |
19Q13.11 Microdeletion Syndrome |
|
Congenital hip dislocation, Failure to thrive, Cachexia |
ORPHA:217346 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Low-set ears |
OMIM:601163 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Congenital sensorineural hearing impairment,... |
OMIM:157800 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Joint hypermobility, Obesity, Kyphoscoliosis |
ORPHA:404443 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Joint contracture of the hand, Kyphoscoliosis, Camptodactyly |
OMIM:612513 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Patent ductus arteriosus, Left ventricula... |
OMIM:300967 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Delayed epiphyseal ossificati... |
OMIM:114290 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... |
ORPHA:133 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Sanjad-Sakati Syndrome |
|
Postnatal growth retardation, Myopathy, Short stature, Severe intrauterine growth retardation |
ORPHA:2323 |
Congenital Disorder Of Deglycosylation 1 |
|
Anhidrosis, Pain insensitivity, Microcephaly, Chorea, Brachycephaly, Dysmetria, Hyperhidrosis, At... |
OMIM:615273 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Peho-Like Syndrome |
|
Optic atrophy, Myoclonus |
OMIM:617507 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma, Short neck, Muscle weakness |
ORPHA:647 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Stiff neck, Short neck, Macroglossia, Increased variability in m... |
OMIM:617022 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Babinski sign, Skeletal myopathy, Tip-toe gait, Left ventricular hypertrophy, Fre... |
ORPHA:746 |
Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Tachypnea |
OMIM:615751 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Death in infancy, Muscular dystrophy, Death in childhood |
OMIM:614643 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Optic atrophy, Poor fine motor coordination, Fa... |
ORPHA:79282 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
Mucolipidosis Type Ii |
|
Hip contracture, Respiratory failure requiring assisted ventilation, Prominent metopic ridge, Dia... |
ORPHA:576 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Posteriorly rotated ears, Small for gestational age, Elevated circulating luteinizing hormone lev... |
OMIM:618419 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Macroglossia, Opisthotonus |
OMIM:269150 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:99901 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Ataxia, Tremor, Truncal ataxia, Dysmetria, Dystonia, Left ventricular ... |
OMIM:220111 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Joint contracture, Myoclonus, Leukodystrophy |
OMIM:614462 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... |
ORPHA:206572 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... |
OMIM:616433 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,... |
ORPHA:139396 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... |
ORPHA:95494 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus |
ORPHA:324708 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Diffuse axonal swelling, Abnormal autonomic ... |
ORPHA:35069 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... |
ORPHA:391428 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
Charge Syndrome |
|
Bifid scrotum, Hypoplasia of the semicircular canal, Micropenis, Low-set, posteriorly rotated ear... |
ORPHA:138 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Myopathy |
OMIM:617713 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus |
OMIM:619092 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Inability to walk, Kyphosis, Unsteady... |
ORPHA:3063 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Scoliosis, Failure... |
ORPHA:94065 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Igg4-Related Pachymeningitis |
|
Low back pain, Lower limb muscle weakness, Increased circulating IgG4 level, Complement deficienc... |
ORPHA:449427 |
Trisomy 18 |
|
Cachexia, Hypertonia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:3380 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Gait disturbance, Myoclonus |
OMIM:600795 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Delayed skeletal maturation, Cubitus valgus, Asthma, Kyphoscoliosis |
OMIM:620237 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Dystonia, Facial hypotonia, Limb joint contracture, Small for gestational age,... |
ORPHA:404454 |
Mevalonic Aciduria |
|
Ataxia, Failure to thrive in infancy, Kyphoscoliosis, Progressive cerebellar ataxia, Failure to t... |
OMIM:610377 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Scoliosis |
OMIM:147060 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperkinetic movements, Short stature |
ORPHA:289522 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai... |
OMIM:607822 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529808 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, Scoliosis |
ORPHA:391307 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical instability, Thorac... |
OMIM:617425 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... |
OMIM:130060 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Scleromyxedema |
|
Myopathy, Abnormal skeletal muscle morphology |
ORPHA:167635 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Decreased muscle mass, Joint stiffness, Osteoporosis, Weight loss, Arthritis, Joint ... |
ORPHA:465508 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Meier-Gorlin Syndrome 1 |
|
Frontal bossing, Clitoral hypertrophy, Small for gestational age, Microcephaly, Cryptorchidism, H... |
OMIM:224690 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive, Tachypnea, Cough |
ORPHA:137675 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy, Muscle weakness |
OMIM:160900 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Ataxia, Cachexia |
ORPHA:220295 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
Schwannomatosis, Vestibular |
|
Ataxia, Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas... |
OMIM:101000 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Ataxia, Kyphoscoliosis, Shyness, Patent ductus arteriosus, Synostosis involving the... |
ORPHA:466791 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hip dislocation, Osteolytic defects of ... |
OMIM:309350 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
You-Hoover-Fong Syndrome |
|
Ataxia, Paroxysmal bursts of laughter, Kyphoscoliosis |
OMIM:616954 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Kyphoscoliosis |
OMIM:618339 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... |
ORPHA:58 |
Autoimmune Hepatitis |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spastici... |
ORPHA:496641 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Wide anterior fontanel, Low-set ears, Failur... |
ORPHA:401973 |
Stormorken Syndrome |
|
Myopathy, Short stature |
OMIM:185070 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Short stature, Increa... |
OMIM:256040 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal odontoid process morphology, Kyphoscoliosis, Delayed skeletal maturation, Flat acetabula... |
ORPHA:2976 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Retrograde ejaculation |
OMIM:223360 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involuntary movements, Babinski sign, Optic... |
ORPHA:480864 |
Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Weight loss |
ORPHA:517 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
48,Xxxy Syndrome |
|
Short neck, Tremor, Pulmonary embolism, Asthma, Elbow dislocation, Hip dislocation, Obesity, Join... |
ORPHA:96263 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park... |
ORPHA:411602 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Protrusio acetabuli, Kyp... |
OMIM:225400 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Rhabdomyosarcoma, Growth delay, Muscular dystrophy, Intrauterine growth retardation |
ORPHA:1052 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... |
OMIM:259770 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma |
OMIM:162260 |
Rheumatic Fever |
|
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, Hemiballismus, Fa... |
ORPHA:3099 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... |
OMIM:110100 |
Rhabdoid Tumor |
|
Hemiplegia, Oculomotor nerve palsy, Cerebral palsy, Weight loss |
ORPHA:69077 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Acute Transverse Myelitis |
|
Back pain, Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated se... |
ORPHA:139417 |
Arachnoid Cyst |
|
Back pain, Distal muscle weakness, Facial palsy, Inability to walk, Paraparesis, Slurred speech, ... |
ORPHA:2356 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Cachexia, Paralysis, Oculomotor apraxia, Spastic paraplegia, Ophthalmoplegia, L... |
ORPHA:2072 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea |
OMIM:613834 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic... |
ORPHA:90322 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Ataxia, Infertility, Testicular atrophy |
OMIM:613909 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Optic atrophy, Contractures of the large joints, Hypertonia, Myoclonus... |
ORPHA:3078 |
Thymic Carcinoma |
|
Fatigable weakness, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Delayed CNS myelination, Myoclonus, CNS hypomyelination |
OMIM:616158 |
Hemimegalencephaly |
|
Hemiparesis, Optic atrophy, Myoclonus |
ORPHA:99802 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Congenital diaphragmatic hernia, Elbow flexion contracture, Hemivertebrae, Hip di... |
OMIM:200980 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... |
ORPHA:324964 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Weight l... |
ORPHA:370348 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Intention tremor |
OMIM:610539 |
Pontocerebellar Hypoplasia, Type 10 |
|
Short neck, Kyphoscoliosis, Limb hypertonia |
OMIM:615803 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Galloway-Mowat Syndrome 7 |
|
Cubitus valgus, Kyphoscoliosis |
OMIM:618348 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Frontal bossing, Hearing impairment, Dolichocephaly |
ORPHA:93473 |
Usher Syndrome |
|
Myopathy, Ataxia |
ORPHA:886 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuro... |
ORPHA:275864 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis |
ORPHA:96190 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal... |
OMIM:617527 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity, CNS hypomyelination |
ORPHA:309155 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo... |
OMIM:615559 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven... |
ORPHA:2902 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Intrauterine growth... |
OMIM:620327 |
Barth Syndrome |
|
Growth delay, Skeletal myopathy, Gait disturbance |
OMIM:302060 |
Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures, Vertebral compression fracture, Wormian bones, Kyphoscoliosis |
OMIM:618644 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Muscular dystrophy |
ORPHA:158684 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Kyphoscoliosis |
OMIM:620075 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... |
ORPHA:2311 |
Wrinkly Skin Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of... |
ORPHA:2834 |
Chilblain Lupus |
|
Increased circulating antibody level |
ORPHA:90280 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis |
OMIM:301040 |
Alpha-Mannosidosis |
|
Macroglossia, Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Rhabdomyolysis, Renal tubular epithelial necrosis |
ORPHA:157 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Decre... |
OMIM:615190 |
Marfan Syndrome |
|
Decreased muscle mass, Genu recurvatum, Protrusio acetabuli, Kyphoscoliosis, Flexion contracture,... |
OMIM:154700 |
Arima Syndrome |
|
Dyspnea, Tachypnea, Ataxia |
OMIM:243910 |
Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
Inhalational Botulism |
|
Muscle weakness, Paralysis |
ORPHA:254504 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level |
OMIM:212050 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, T lymphocytopenia, Lymph node hypoplasia, Decreased circulating total IgM, B ... |
OMIM:300755 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Broad-based gait, Sacral dimple, Progressive flexion cont... |
ORPHA:93932 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Ataxia, Delayed myelination, Chorea, Choreoathetosis, Hyperkine... |
ORPHA:522077 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Failure to thrive |
ORPHA:583 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Dystonia, Action tremor, Rigidity, Truncal ataxia, Bradykinesia, Poor fine ... |
ORPHA:309854 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... |
OMIM:208900 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Calvarial osteosclerosis, Kyphoscoliosis, Camptodactyly |
OMIM:616331 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro... |
OMIM:249420 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level |
OMIM:614470 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... |
ORPHA:169160 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Tetrasomy 9P |
|
Arthritis, Myositis, Pericarditis |
ORPHA:3310 |
Chédiak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Muscle weakness |
ORPHA:167 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... |
ORPHA:3261 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Short stature |
OMIM:270300 |
Aortic Arch Interruption |
|
Respiratory distress, Patent ductus arteriosus, Tachypnea, Left ventricular hypertrophy, Exertion... |
ORPHA:2299 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Muscle weakness, Decreased circ... |
OMIM:275350 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Generalized dystonia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Dystonia... |
OMIM:620358 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
Wilson Disease |
|
Decreased nerve conduction velocity, Hypoesthesia, Limb muscle weakness, Hypoparathyroidism |
OMIM:277900 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... |
ORPHA:2916 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Increased circulating IgA level |
ORPHA:186 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Pneumothorax, Hip dislocation, Camptodactyly, Joint contracture, Failure to thrive |
OMIM:617403 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Myoclonus, Decreased body weight |
OMIM:619060 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... |
ORPHA:90060 |
Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea |
ORPHA:71275 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Obesity, Hyperlordosis |
ORPHA:3085 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Kyphoscoliosis |
OMIM:163200 |
Sponastrime Dysplasia |
|
Joint laxity, Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Avascular necrosis... |
ORPHA:93357 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe... |
ORPHA:79128 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Double Outlet Left Ventricle |
|
Failure to thrive, Patent ductus arteriosus, Tachypnea |
ORPHA:3427 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... |
ORPHA:280365 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Kyphoscoliosis,... |
OMIM:210730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Generalized muscle weakness, Muscular dystrophy, Myoclonus, Spasticity, Muscle weakness |
OMIM:253280 |
Graves Disease, Susceptibility To, 1 |
|
Muscle weakness, Weight loss |
OMIM:275000 |
Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Weight loss |
ORPHA:178029 |
Osteosarcoma |
|
Pathologic fracture, Joint swelling, Osteolysis, Weight loss |
ORPHA:668 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus |
OMIM:615859 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity, Skeletal muscle atrophy |
OMIM:219080 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... |
OMIM:219090 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Joint contractu... |
OMIM:609029 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
4Q21 Microdeletion Syndrome |
|
Tremor, Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Farber Disease |
|
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Spasticity, Failure to thrive |
ORPHA:333 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... |
ORPHA:98889 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Spastic tetraplegia |
ORPHA:3240 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy |
OMIM:115197 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Acquired Generalized Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy |
ORPHA:79086 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unsteady gait, Obesi... |
OMIM:618443 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis |
ORPHA:137834 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Arthritis, Abnormal pattern of respiration, Weight loss |
ORPHA:3287 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Ataxia |
ORPHA:324737 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, Decreased ci... |
ORPHA:436159 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bone hypoplasia |
OMIM:184253 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis |
OMIM:619797 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Contractures of the large joints,... |
ORPHA:521426 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, ... |
OMIM:618493 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Clark-Baraitser syndrome |
|
Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:79107 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Generalized muscle weakness, Rhabdomyolysis, Muscle weakness |
OMIM:263800 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Left ventricular noncompaction, Myoclonus, Dystonia, Left ventricular ... |
OMIM:619167 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Muscle weakness, Paralysis |
OMIM:176000 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Proteus Syndrome |
|
Decreased muscle mass, Cachexia, Pulmonary embolism, Joint stiffness, Kyphosis, Craniosynostosis,... |
ORPHA:744 |
Felty Syndrome |
|
Sinusitis, Abnormal joint morphology, Limitation of joint mobility, Recurrent pneumonia, Osteolys... |
ORPHA:47612 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Palatal tremor, Truncal ataxia, Spastic paraparesis |
OMIM:113610 |
Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy, Pheochromocytoma, Ganglioneuroma, Failure to thrive in infancy |
OMIM:162300 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Limb joint contracture, Short stature, Ataxia, Postural tremor, Flexion ... |
OMIM:301072 |
Pituitary Gigantism |
|
Frontal bossing, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, In... |
ORPHA:99725 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Failure to thrive, Myoclonus |
OMIM:300673 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Inappro... |
OMIM:618476 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... |
ORPHA:628 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Obesity, Scoliosis, Short neck |
ORPHA:3191 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination, Camptodactyly |
OMIM:617333 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ulnar deviation of the wrist, Interphalangeal joint contracture of finger, Diastasis recti, Short... |
ORPHA:96334 |
Aicardi-Goutieres Syndrome 9 |
|
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ... |
OMIM:619487 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Poor head control, Ataxia, Ragged-red muscle fibers, Babinski sign, Tong... |
OMIM:252010 |
Alveolar Echinococcosis |
|
Low back pain, Ataxia, Dyspnea, Abnormal skeletal muscle morphology, Weight loss, Cough, Abnormal... |
ORPHA:284 |
Wolfram Syndrome |
|
Myopathy, Ataxia, Delayed puberty |
ORPHA:3463 |
Pfapa Syndrome |
|
Arthritis, Weight loss |
ORPHA:42642 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hypertonia, Myoclonus |
OMIM:618240 |
Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Hypertonia, Myoclonus |
ORPHA:79096 |
Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia, Spasticity |
OMIM:619124 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus |
ORPHA:411986 |
Leopard Syndrome 1 |
|
Scapular winging, Limited elbow movement, Kyphoscoliosis, Short neck, Cubitus valgus, Spina bifid... |
OMIM:151100 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Intention tremor |
OMIM:612780 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Spinal canal stenosis, Decreased circulating IgA level |
OMIM:618282 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... |
OMIM:233450 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Kyphoscoliosis, Short neck, Patent ductus arteriosus, Elbow flexion... |
ORPHA:96149 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hypotonia, Spasticity, Severe muscular hypotonia, Muscular dystrophy |
OMIM:615287 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Dyskeratosis Congenita, Digenic |
|
Short stature, Decreased circulating total IgM, Intrauterine growth retardation, Decreased circul... |
OMIM:620040 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormality of the menstrual cycle, Abnormality of the ... |
ORPHA:3385 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Decreased circulating total IgM, Decreased circulating IgG level, Butterfly vertebrae... |
OMIM:607143 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy |
ORPHA:85450 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral ... |
OMIM:109400 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Lowe... |
ORPHA:573278 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo... |
OMIM:248700 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Depression |
ORPHA:83601 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level |
OMIM:226990 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Short stature |
ORPHA:2549 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
Galloway-Mowat Syndrome 10 |
|
Delayed CNS myelination, Myoclonus |
OMIM:619609 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Flat acetabular roof, V... |
ORPHA:263508 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, Decreased ci... |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Short neck |
OMIM:608776 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, Tremor, Delayed myelination, Obesity, Myoclonus |
ORPHA:98794 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Failure to thrive |
ORPHA:500055 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Dyspnea, Weight loss, Cough |
ORPHA:75566 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Ataxia, Camptodactyly of finger, Irregular sclerotic endplates, Action tremor, Tremor... |
ORPHA:3455 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Aplasia/... |
ORPHA:646 |
Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Tremor, Cranial nerve compression, Vocal cord paralysis, Conductive hearing i... |
ORPHA:94080 |
Treacher-Collins Syndrome |
|
Frontal bossing, Thyroid hypoplasia, Hypoplasia of penis, Small scrotum, Failure to thrive, Crypt... |
ORPHA:861 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Gait distur... |
ORPHA:192 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Tremor, Kyphosis, Flexion contracture, Dysmetria, Failure to thrive, Muscle weakness, Int... |
OMIM:212065 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... |
OMIM:253010 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Short stature |
ORPHA:1493 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Congenital contracture, Congenital muscular dystrophy, Optic atrophy, Optic nerve hypoplasia |
OMIM:236670 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Fatal Familial Insomnia |
|
Apnea, Ataxia, Weight loss |
OMIM:600072 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Kyphoscoliosis, Pneumothorax, Knee flexion contracture, Decreased body weight, Camp... |
OMIM:617402 |
Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... |
OMIM:619652 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Floating-Harbor Syndrome |
|
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Cochlear malformation... |
ORPHA:2044 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Sinusitis, Recurrent pneumonia, Weight loss, Arthritis, Failure to thrive |
ORPHA:47 |
Stromme Syndrome |
|
Myopathy |
OMIM:243605 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:615381 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive |
OMIM:617602 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:254346 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Short stature, Transient hypogammaglobulinemia of infancy, Elbow flexion... |
ORPHA:3132 |
Pediatric-Onset Graves Disease |
|
Tremor, Failure to thrive, Hyperkinetic movements |
ORPHA:525731 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus |
ORPHA:168491 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction |
ORPHA:481 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Weight loss |
ORPHA:26790 |
Isotretinoin-Like Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Bilateral sensorineural hear... |
ORPHA:2306 |
Alpha-Mannosidosis, Infantile Form |
|
Facial hypotonia, Ataxia, Spastic paraplegia, Clumsiness, Macroglossia, Myopathy |
ORPHA:309282 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... |
OMIM:253220 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Pain insensitivity, Tremor, Kyphosis, Scoliosis |
OMIM:617061 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive |
ORPHA:420794 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Hyperlordosis, Kyphoscoliosis, Proximal amyotrophy |
ORPHA:653 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hyperlordosis, Decreased circulating ... |
ORPHA:221139 |
8P23.1 Microdeletion Syndrome |
|
Weight loss, Obesity, Congenital diaphragmatic hernia, Short neck |
ORPHA:251071 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Dyspnea, Bone pain, Osteolysis, Weight los... |
ORPHA:35687 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:261144 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619802 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... |
OMIM:265000 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Loss of ambulation, Spasticity |
ORPHA:93399 |
Insulin-Resistance Syndrome Type B |
|
Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas... |
ORPHA:2298 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Ga... |
ORPHA:144 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Flexion contracture, Myopathy, Gait disturbance |
ORPHA:3042 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Left... |
OMIM:618321 |
Gaucher Disease Type 1 |
|
Kyphosis, Growth delay, Increased circulating antibody level, Delayed puberty, Vertebral compress... |
ORPHA:77259 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Congenital diaphragmatic hernia, Scoliosis |
ORPHA:2075 |
Steinert Myotonic Dystrophy |
|
Neck flexor weakness, Decreased response to growth hormone stimulation test, Non-medullary thyroi... |
ORPHA:273 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beaking of vertebral b... |
OMIM:230500 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Slender build, Myoclonus |
OMIM:617600 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Short stature, Ataxia, Inability to walk, Vocal cord paralysis, Growth del... |
OMIM:617799 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... |
OMIM:607015 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Rothmund-Thomson Syndrome, Type 2 |
|
Osteoporosis, Congenital hip dislocation, Small for gestational age, Kyphoscoliosis |
OMIM:268400 |
Primary Sclerosing Cholangitis |
|
Generalized amyotrophy, Polyclonal elevation of IgM |
ORPHA:171 |
Bohring-Opitz Syndrome |
|
Failure to thrive, Flexion contracture, Delayed peripheral myelination, Camptodactyly |
OMIM:605039 |
Yao Syndrome |
|
Arthritis, Asthma, Weight loss |
OMIM:617321 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Wheezing, Weight loss, Cough |
ORPHA:171876 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Cystic Echinococcosis |
|
Abnormality of the vertebral column, Abnormality of the diaphragm, Weight loss |
ORPHA:400 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia |
OMIM:617190 |
3M Syndrome |
|
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Camptodactyly of finger, Facial palsy, Kyphosis, Gait disturbance, Scolios... |
ORPHA:261349 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... |
OMIM:242840 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Increased circulating antibody level |
ORPHA:83600 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Myoclonus, Weight loss |
OMIM:256700 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Periodic hypokale... |
ORPHA:37553 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Growth delay, Decreased circulating total IgM, Decreased specific antibody response to vaccinatio... |
OMIM:614700 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Athetosis, Impaired social interactions, Scoliosis, Spasticity, Apraxia |
OMIM:613454 |
Tularemia |
|
Increased circulating antibody level |
ORPHA:3392 |
Familial Colorectal Cancer Type X |
|
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Ga... |
ORPHA:440437 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Restrictive ventilatory d... |
ORPHA:420741 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Netherton Syndrome |
|
Increased circulating IgE level, Short stature, Decreased circulating antibody level |
ORPHA:634 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Brucellosis |
|
Increased circulating IgG level, Sacroiliac arthritis, Increased circulating IgM level |
ORPHA:1304 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture... |
ORPHA:468631 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I... |
OMIM:102700 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating luteinizing hormone level, Microcepha... |
OMIM:617253 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Optic atrophy, Myoclonus, Dystonia |
OMIM:617669 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
3Q27.3 Microdeletion Syndrome |
|
Kyphoscoliosis |
ORPHA:397695 |
Trichothiodystrophy 3, Photosensitive |
|
Intrauterine growth retardation, Short stature, Increased circulating IgA level |
OMIM:616395 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Vertigo, Cystocele, Decr... |
ORPHA:285 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Bloom Syndrome |
|
Postnatal growth retardation, Growth delay, Decreased circulating total IgM, Intrauterine growth ... |
OMIM:210900 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Tachypnea, Right ventricular hypertrophy |
ORPHA:3384 |
Netherton Syndrome |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Myoclonus, Dystonia |
OMIM:620167 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Vocal cord paralysis, Abnormality of the cervical spine, Weight loss |
ORPHA:221098 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617281 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449395 |
Leishmaniasis |
|
Increased circulating antibody level |
ORPHA:507 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Hypotrophy of the small han... |
OMIM:610443 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Short stature, Ataxia, Involuntary movements, Chorea, Clumsiness, Growth delay, C... |
ORPHA:209905 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Poor gros... |
OMIM:176270 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Kyphoscoliosis, Short neck, Delayed closure of the... |
OMIM:304120 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Vocal cord paralysis, Pulsatile tinnitus |
OMIM:605373 |
Somatomammotropinoma |
|
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... |
ORPHA:314769 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:314588 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi... |
OMIM:300966 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sagittal craniosynostosis, Pa... |
ORPHA:500150 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy |
OMIM:261740 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weight loss, Paresthesia, Hyperesthesia, Sclero... |
ORPHA:2905 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis |
ORPHA:97360 |
Waldenström Macroglobulinemia |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:33226 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Weight loss |
ORPHA:168811 |
Giant Cell Arteritis |
|
Ataxia, Epistaxis, Joint stiffness, Weight loss, Arthritis, Cough |
ORPHA:397 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Obesity |
ORPHA:261222 |
Harrod Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis |
ORPHA:2115 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness |
ORPHA:43393 |
Trisomy 20P |
|
Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:261318 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Scol... |
ORPHA:2215 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Myoclonus |
ORPHA:168593 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Mgat2-Cdg |
|
Kyphosis, Decreased circulating antibody level, Scoliosis, Decreased lymphocyte proliferation in ... |
ORPHA:79329 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Progressive microcephaly, Adult onset sensorineu... |
ORPHA:90324 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, Intention tremor |
OMIM:619708 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Spasticity, Failure to thrive, Muscle weakness |
OMIM:124000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint laxity, Sacral dimple, Joint dislocation, Small for gestational age, C... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint laxity, Sacral dimple, Joint dislocation, Small for gestational age, C... |
ORPHA:363958 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Weight loss, Bronchospasm |
ORPHA:97287 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Genu valgum, Scoliosis, Joint hyp... |
ORPHA:363700 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Myopathy, Patent ductus arteriosus |
OMIM:612541 |
Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Cachexia |
ORPHA:79076 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Kyphoscoliosis, Short neck, Delayed skeletal maturation, Obesity, Genu valgum, Macroglossia, Lowe... |
OMIM:309580 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Ankle swelling, Exertional dyspnea |
ORPHA:514 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Prominent metopic ridge, Ataxia, Weight loss, Lower-limb joint contracture, Arthrogryposis multip... |
ORPHA:99885 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Kyphoscoliosis, Ankylosis, Patent ductus arteriosus, Flexion contracture,... |
OMIM:275210 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Ataxia, Myoclonus |
OMIM:560000 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Conductive hearing impairment, Vocal cord paralysis, Pulsatile tinnitus |
OMIM:168000 |
Weaver Syndrome |
|
Diastasis recti, Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, C... |
OMIM:277590 |
Microform Holoprosencephaly |
|
Intrauterine growth retardation, EMG: myopathic abnormalities, Short stature |
ORPHA:280200 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Vertebral compression fracture, Paraparesis, Tetraparesis |
OMIM:602080 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Dystonia, Cerebral palsy, Delayed myelination, Myoclonus, Limb dystonia, Hemiplegia, Failure to t... |
OMIM:616973 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... |
OMIM:618050 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive |
ORPHA:476126 |
Acromegaly |
|
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... |
ORPHA:963 |
Noonan Syndrome 1 |
|
Failure to thrive in infancy, Kyphoscoliosis, Short neck, Patent ductus arteriosus, Synovitis, Ch... |
OMIM:163950 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Angelman Syndrome |
|
Optic disc pallor, Ataxia, Cerebral dysmyelination, Tremor, Optic atrophy, Obesity, Myoclonus |
ORPHA:72 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Osteopenia, Hip subluxation, Osteoporosis, Hip dislocation, Osteolytic defects of ... |
OMIM:182250 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Systemic Capillary Leak Syndrome |
|
Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea |
ORPHA:188 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Kyphosis, Flexion contracture, Increased body weight, Abdominal o... |
ORPHA:398069 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Rat-Bite Fever |
|
Back pain, Oligoarthritis, Tendonitis, Weight loss, Arthritis, Septic arthritis |
ORPHA:31205 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:2479 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Growth delay, Increased circulating IgA level |
ORPHA:343 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypotonia, Hypertonia, Myoclonus, Generalized hypotonia, Tetraparesis |
OMIM:203700 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:99827 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
Tropical Endomyocardial Fibrosis |
|
Orthopnea, Cachexia, Dyspnea, Myocardial calcification, Pulmonary venous hypertension |
ORPHA:75565 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... |
OMIM:612301 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Growth delay, Decreased circulating IgG level, Bone marrow hypocellularity |
OMIM:301078 |
Aspergillosis |
|
Abnormality of the vertebral column, Increased circulating IgE level |
ORPHA:1163 |
Immunodeficiency 31C |
|
Osteopenia, Skeletal muscle atrophy, Osteomyelitis, Bronchiectasis, Weight loss, Cough |
OMIM:614162 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Tremor, Overweight, Obesity, Upper limb spasticity, Myoclonus, Dec... |
OMIM:619229 |
Lead Poisoning |
|
Abnormality of humoral immunity, Increased circulating IgE level, Distal muscle weakness, Delayed... |
ORPHA:330015 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... |
OMIM:203500 |
Yellow Fever |
|
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Low back pain |
ORPHA:99829 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Failure to thrive in infancy, Kyphoscoliosis, Flexion contracture, Oste... |
OMIM:194050 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intention tremor |
OMIM:254900 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Scoliosis |
ORPHA:2314 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Bloom Syndrome |
|
Decreased circulating antibody level, Growth delay, Severe postnatal growth retardation, Decrease... |
ORPHA:125 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Weight loss, Abnormal breath sound, Cough |
ORPHA:97289 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Cysticercosis |
|
Calcification of muscles, Abnormality of the vertebral column, Increased circulating antibody lev... |
ORPHA:1560 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Decreased circulating IgG level, Short stature |
OMIM:601675 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis, Depression |
OMIM:170390 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Delayed myelination, Myoclonus |
ORPHA:314655 |
Fabry Disease |
|
Left ventricular hypertrophy, Fasciculations, Delayed puberty |
OMIM:301500 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Dec... |
OMIM:619381 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Aggressive Systemic Mastocytosis |
|
Bone pain, Osteolysis, Osteoporosis, Weight loss, Pathologic fracture |
ORPHA:98850 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Productive cough, Bone pain, Weight loss, Exertional dyspnea |
ORPHA:520 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99226 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Rhizomelia, Elbow contracture, Knee flexion contracture |
OMIM:618162 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:881 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Sp... |
ORPHA:763 |
Selective Igm Deficiency |
|
Paraproteinemia, Growth delay, Decreased circulating total IgM, Decreased specific antibody respo... |
ORPHA:331235 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Incontinentia Pigmenti |
|
Hemivertebrae, Kyphoscoliosis |
OMIM:308300 |
Sialuria |
|
Hyperkinetic movements |
ORPHA:3166 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Weight loss |
ORPHA:3226 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Viss Syndrome |
|
Short stature, Kyphosis, Increased circulating IgE level, Macroglossia, Increased circulating IgG... |
OMIM:619472 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Bico... |
OMIM:607014 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive, Muscle weakness |
OMIM:239000 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2789 |
Immunodeficiency 47 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:300972 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
Prolidase Deficiency |
|
Increased circulating antibody level |
OMIM:170100 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Trisomy 13 |
|
Kyphosis, Scoliosis |
ORPHA:3378 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Ankle flexion contracture, Kyphosis, Gait disturban... |
ORPHA:464311 |
Legius Syndrome |
|
Neurofibroma, Ovarian neoplasm, Vestibular schwannoma, Male urethral meatus stenosis, Macrocephal... |
ORPHA:137605 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Short stature, Growth delay, Myopathy, Delayed puberty |
OMIM:219800 |
Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:280 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Scoliosis, Overfriendliness |
ORPHA:96169 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Scoliosis, Decreased circulating IgA level, Decreased circulatin... |
OMIM:617062 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Trichinellosis |
|
Ophthalmoplegia, Increased circulating IgE level, Facial palsy, Muscle weakness |
ORPHA:863 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the extraocular muscles, Increased circulating IgE level, Increased circulating Ig... |
ORPHA:449563 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Delayed myelination, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity, F... |
ORPHA:1934 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Rickets, Osteoporosis, Weight loss, Failure to thrive |
OMIM:212750 |
Dubowitz Syndrome |
|
Sacral dimple, Short stature, Postnatal growth retardation, Intrauterine growth retardation, Decr... |
OMIM:223370 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Growth delay, Gait disturbance, Myoclonus, Oculomotor apraxia |
ORPHA:247262 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Oculomotor apraxia, Abnormal myelination |
ORPHA:67045 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
OMIM:619951 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Reduced bone mi... |
OMIM:619377 |
Al Amyloidosis |
|
Dyspnea, Nonproductive cough, Macroglossia, Weight loss |
ORPHA:85443 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Kyphosis, Flexion contracture, Short neck |
OMIM:309900 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Microcephaly |
OMIM:618165 |
Developmental And Epileptic Encephalopathy 100 |
|
Delayed CNS myelination, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia,... |
OMIM:619777 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Eosinophilic Gastroenteritis |
|
Asthma, Allergic rhinitis, Weight loss |
ORPHA:2070 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Floating-Harbor Syndrome |
|
Joint laxity, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, Kypho... |
OMIM:136140 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic sen... |
ORPHA:642 |
Adrenocortical Carcinoma |
|
Increased body weight, Muscle weakness, Weight loss |
ORPHA:1501 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Small for gestational age, Kyphosis, Gait disturbance, Scoliosis, Fa... |
ORPHA:464306 |
1P36 Deletion Syndrome |
|
Short stature, Camptodactyly of finger, Hemiplegia/hemiparesis, Myopathy, Gait disturbance |
ORPHA:1606 |
Malignant Atrophic Papulosis |
|
Muscle flaccidity, Pain insensitivity, Weight loss |
ORPHA:679 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Respiratory insufficiency, Enthesitis, Weight loss, Arthritis, Jo... |
ORPHA:29207 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Spasticity, Scoliosis |
OMIM:616449 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Congenital Sialidosis Type 2 |
|
Spasticity, Ataxia, Myoclonus, Dysmetria |
ORPHA:93400 |
Noonan Syndrome 14 |
|
Kyphosis, Scapular winging, Short neck |
OMIM:619745 |
Williams Syndrome |
|
Osteopenia, Tremor, Dysmetria, Abnormal form of the vertebral bodies, Vertebral segmentation defe... |
ORPHA:904 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Micro Syndrome |
|
Kyphosis, Spasticity, Scoliosis |
ORPHA:2510 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Poor head control, Spastic tetraparesis, Tetraplegia, Weight loss, Hyperto... |
OMIM:615846 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Pallister-Killian Syndrome |
|
Sacral dimple, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Kyphoscol... |
OMIM:601803 |
Congenital Tufting Enteropathy |
|
Arthritis, Failure to thrive, Weight loss |
ORPHA:92050 |
Microphthalmia, Lenz Type |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:568 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Short neck, Patent ductus arteriosus, Obesity, Scoliosis, Impaired social i... |
ORPHA:177907 |
Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Joint contracture of the 5th finger, Tetraparesis, Spasticity |
OMIM:164200 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Kyphoscoliosis, Joint stiffness |
OMIM:618820 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral c... |
ORPHA:77301 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ... |
ORPHA:314647 |
Aapoaiv Amyloidosis |
|
Back pain, Paraproteinemia |
ORPHA:439232 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Clonus, Spastic tetraplegia, Myoclonus, Failure to thrive |
OMIM:619055 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Inability to walk, Difficulty walking, Scoliosis, Spasticity, Contracture of the proxim... |
ORPHA:464738 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Accelerated skeletal maturation, Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Solitary Fibrous Tumor |
|
Low back pain, Weight loss |
ORPHA:2126 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Incoordination |
OMIM:223900 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Schwannoma, Pheochromocytom... |
OMIM:160980 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Dyspnea, Interstitial pneumonitis, Weight loss, Cough |
ORPHA:139402 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe postnatal growth retardation, Decreased circulating total IgM, Intrauterine growth retarda... |
OMIM:620005 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Failure to thrive, Delayed peripheral myelination |
ORPHA:364577 |
Gitelman Syndrome |
|
Paralysis, Rhabdomyolysis, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Muscle weak... |
ORPHA:358 |
Amoebiasis Due To Entamoeba Histolytica |
|
Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion |
ORPHA:67 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus |
OMIM:246450 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Scoliosis, Decreased circulating IgA level |
ORPHA:369837 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers |
OMIM:256800 |
Short Syndrome |
|
Joint hyperflexibility, Weight loss |
ORPHA:3163 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level |
OMIM:304790 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Dermatomyositis |
|
Respiratory insufficiency, Weight loss, Inflammatory myopathy, Arthritis, Pulmonary arterial hype... |
ORPHA:221 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Growth delay, Increased circulating IgE level |
OMIM:615508 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis |
OMIM:617011 |
Neurofibroma |
|
Spinal canal stenosis, Kyphoscoliosis |
ORPHA:252183 |
Alstrom Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
OMIM:203800 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Diabetic ketoacidosis, Ataxia, Abnormality of peripheral nerve cond... |
OMIM:601992 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia |
OMIM:602450 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Hyperventilation |
ORPHA:64280 |
Cohen Syndrome |
|
Kyphosis, Failure to thrive in infancy, Obesity, Scoliosis |
ORPHA:193 |
Spondyloenchondrodysplasia |
|
Kyphosis, Chorea, Platyspondyly, Spasticity |
ORPHA:1855 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... |
OMIM:619194 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive |
ORPHA:201 |
Gaucher Disease Type 3 |
|
Growth delay, Ophthalmoplegia, Increased circulating antibody level, Delayed puberty |
ORPHA:77261 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Decreased body weight, Scoliosis, Impaired pain sensation |
OMIM:619005 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Flex... |
ORPHA:666 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Muscle weakness, Weight loss |
ORPHA:199299 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging |
OMIM:616914 |
9P13 Microdeletion Syndrome |
|
Short stature, Myoclonus, Hand tremor |
ORPHA:324313 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Tetraplegia, Weight loss |
ORPHA:361 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:158350 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Respiratory failure requiring assisted ventilation, Abnormal social behavior, ... |
ORPHA:1675 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve... |
ORPHA:90363 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
Q Fever |
|
Cryoglobulinemia, Increased circulating antibody level, Muscle weakness |
ORPHA:781 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati... |
ORPHA:284339 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
Pmm2-Cdg |
|
Respiratory distress, Osteopenia, Joint laxity, Multiple joint contractures, Ataxia, Kyphoscolios... |
ORPHA:79318 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Cle... |
ORPHA:83617 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level |
ORPHA:319218 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:251014 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Camptodactyly |
OMIM:619123 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Truncal obesity |
OMIM:610489 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Myoclonus, Delayed puberty |
ORPHA:251004 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Myoclonus |
OMIM:300672 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Increased... |
ORPHA:373 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspnea, Weight loss, Aspiration pneumonia, Cough, Failure to thrive |
ORPHA:1018 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Bronchospasm, Weight loss |
ORPHA:100085 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Dysmetria |
OMIM:620185 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:29072 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defect, Pleural effusion... |
OMIM:181000 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Rheumatoid arthritis, Renal tubular epithelial necrosis, Weight loss |
ORPHA:49041 |
Polycythemia Vera |
|
Weight loss, Epistaxis, Respiratory insufficiency, Pulmonary embolism |
ORPHA:729 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Myoclonus |
OMIM:614946 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Neuroendocrine Tumor Of The Colon |
|
Bronchospasm, Weight loss |
ORPHA:100080 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly |
OMIM:616894 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Wheezing, Pneumothorax, Flexion contracture, Bronchiectasis, Weight loss, Arthritis, Cou... |
ORPHA:99921 |
Orofaciodigital Syndrome Type 3 |
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Oculomotor apraxia, Spasticity, Myoclonus |
ORPHA:2752 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea |
OMIM:608710 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Intrauterine growth retardation, Myoclonus |
ORPHA:1352 |
Listeriosis |
|
Ataxia, Tremor, Rhabdomyolysis, Hemiparesis, Myoclonus |
ORPHA:533 |
Lafora Disease |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity |
ORPHA:501 |
Zttk Syndrome |
|
Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Spasticity, Failure to thrive |
OMIM:617140 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Poland Syndrome |
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Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He... |
ORPHA:2911 |
Myoclonic Epilepsy Of Lafora |
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Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Neuroendocrine Tumor Of The Rectum |
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Bronchospasm, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
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Bronchospasm, Weight loss |
ORPHA:100082 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,... |
ORPHA:268261 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Increased susceptibility to fractures, Bone pain, Osteoporosis, Weight loss |
ORPHA:98849 |
Aspartylglucosaminuria |
|
Kyphosis, Spasticity, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral... |
OMIM:208400 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Muscle weakness, Weight loss |
ORPHA:95409 |
Stevens-Johnson Syndrome |
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Dyspnea, Restrictive ventilatory defect, Weight loss, Cough |
ORPHA:36426 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Weight loss, Cough |
ORPHA:537 |
Hyper-Igd Syndrome |
|
Increased circulating IgD level, Increased circulating IgA level |
OMIM:260920 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational age, Kyphosis, Abno... |
OMIM:194190 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Hypertonia, Failure to thrive |
OMIM:300960 |
Opsoclonus-Myoclonus Syndrome |
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Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Smith-Lemli-Opitz Syndrome |
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Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Hyp... |
ORPHA:818 |
Familial Pancreatic Carcinoma |
|
Back pain, Weight loss |
ORPHA:1333 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... |
ORPHA:1507 |
Castleman Disease |
|
Dyspnea, Weight loss, Cough |
ORPHA:160 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Difficulty walking |
OMIM:619482 |
Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies, Fa... |
ORPHA:955 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Ataxia, Hypertonia, Myoclonus, Spasticity, Failure to thrive |
OMIM:618426 |
Ramon Syndrome |
|
Kyphosis, Scoliosis, Decreased body weight |
OMIM:266270 |
Classic Homocystinuria |
|
Hemiplegia/hemiparesis, Kyphosis, Scoliosis |
ORPHA:394 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
Tyrosinemia, Type I |
|
Failure to thrive, Periodic paralysis |
OMIM:276700 |
Wrinkly Skin Syndrome |
|
Scapular winging, Hypoplasia of the musculature, Kyphosis, Scoliosis, Failure to thrive |
OMIM:278250 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Joint contracture of the hand |
OMIM:309800 |
Lathosterolosis |
|
Failure to thrive, Myoclonus |
ORPHA:46059 |
Hermansky-Pudlak Syndrome |
|
Dyspnea, Epistaxis, Weight loss |
ORPHA:79430 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Kyphosis, Platyspondyly, Scoliosis, Joint contracture... |
OMIM:309000 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Fatiguable weakness of proximal limb muscles, Increased body weight, Weight loss, Proximal amyotr... |
ORPHA:99889 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest... |
ORPHA:900 |
Pachydermoperiostosis |
|
Hyperhidrosis, Elevated circulating growth hormone concentration, Impaired temperature sensation |
ORPHA:2796 |
Gaucher Disease |
|
Arthrogryposis multiplex congenita, Increased circulating antibody level, Short stature, Delayed ... |
ORPHA:355 |
Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... |
ORPHA:48435 |
Kinsship Syndrome |
|
Failure to thrive, Myoclonus, Spastic tetraparesis |
OMIM:619297 |
Sarcoidosis |
|
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obstruction, Weight loss, Pleur... |
ORPHA:797 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Facial palsy, Scoliosis |
ORPHA:2658 |
Fanconi Anemia |
|
Patent ductus arteriosus, Hip dislocation, Reduced bone mineral density, Weight loss, Scoliosis |
ORPHA:84 |
Addison Disease |
|
Failure to thrive, Muscle weakness, Weight loss |
ORPHA:85138 |
Neuroendocrine Tumor Of Stomach |
|
Bronchospasm, Weight loss |
ORPHA:100075 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Osteoporosis, Osteomalacia, Weight loss |
ORPHA:309031 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Degcags Syndrome |
|
Small for gestational age, Vocal cord paralysis, Abnormal myelination, Diaphragmatic eventration,... |
OMIM:619488 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Knee flexion con... |
OMIM:259050 |
Parathyroid Carcinoma |
|
Chondrocalcinosis, Bone pain, Osteoporosis, Weight loss |
ORPHA:143 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Kyphosis, Platyspondyly, Scoliosis, Failure to thrive |
ORPHA:534 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Lysinuric Protein Intolerance |
|
Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec... |
ORPHA:470 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Scoliosis, Spina bifida oc... |
OMIM:135900 |
17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Rhabdomyosarcoma, Kyphosis, Abnormality of the vertebral column,... |
ORPHA:97685 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Failure to... |
ORPHA:2273 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Involuntary movements, Delayed myelination, Myoc... |
ORPHA:438213 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Primary Fanconi Renotubular Syndrome |
|
Muscle weakness, Weight loss |
ORPHA:3337 |
Neurofibromatosis Type 1 |
|
Kyphosis, Ataxia, Paresthesia, Scoliosis |
ORPHA:636 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Arthritis, Weight loss |
OMIM:301074 |
Coffin-Lowry Syndrome |
|
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Marburg Hemorrhagic Fever |
|
Back pain, Increased circulating antibody level |
ORPHA:99826 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure, Abnormal social behavior |
ORPHA:805 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Weight loss |
ORPHA:50918 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly |
OMIM:304150 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Failure to thrive, Accelerated skeletal maturation, Hypocapnia |
ORPHA:90794 |
Ring Chromosome 7 Syndrome |
|
Lumbar kyphoscoliosis, Genu valgum |
ORPHA:1449 |
Orofaciodigital Syndrome Type 14 |
|
Trigonocephaly, Microcephaly, Abnormal myelination |
ORPHA:434179 |
Sotos Syndrome |
|
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Tremor, Kyphosis, Bilateral ... |
ORPHA:821 |
Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture |
OMIM:113620 |
Doors Syndrome |
|
Optic atrophy, Myoclonus |
ORPHA:79500 |
Yunis-Varon Syndrome |
|
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... |
OMIM:216340 |
Alström Syndrome |
|
Thoracic scoliosis, Somatic sensory dysfunction, Ataxia, Incoordination, Kyphosis, Obesity, Poor ... |
ORPHA:64 |