| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Ataxia, Morphological abnormality of the pyramidal tract |
OMIM:301840 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Abnormal upper motor neuron morphology |
OMIM:611637 |
| Persistent Idiopathic Facial Pain |
|
Depression, Anxiety, Somatic sensory dysfunction, Paresthesia, Impaired pain sensation |
ORPHA:398147 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
| Spinocerebellar Ataxia 13 |
|
Progressive cerebellar ataxia, Limb ataxia, Morphological abnormality of the pyramidal tract, Lim... |
OMIM:605259 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... |
OMIM:606070 |
| Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... |
OMIM:617158 |
| Dystonia 9 |
|
Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodic ataxia |
OMIM:601042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
| Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... |
OMIM:616852 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... |
OMIM:160150 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Gerstmann-Straussler-Scheinker Syndrome |
|
Acroparesthesia, Morphological abnormality of the pyramidal tract, Paresthesia, Gait ataxia, Dyse... |
ORPHA:356 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Distal sensory impairment, Periph... |
OMIM:614436 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... |
ORPHA:602 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Loss of ambulation |
OMIM:615515 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Spastic gait, Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Huntington Disease-Like 3 |
|
Ataxia, Frontal cortical atrophy, Morphological abnormality of the pyramidal tract, Chorea, Cauda... |
OMIM:604802 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog... |
ORPHA:95434 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, EEG with continuous slow activity, Astrocytosis |
ORPHA:100070 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... |
OMIM:611067 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... |
OMIM:619477 |
| Diaminopentanuria |
|
Ataxia, Neurodegeneration |
OMIM:222350 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Morphological abnormality of the pyramidal tract, Cerebellar atrophy |
OMIM:608768 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Corticospinal tract atrophy |
OMIM:551500 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:612577 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Neurodegeneration, Morphologic... |
OMIM:256600 |
| Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Morphological abnormal... |
OMIM:603516 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Aggressive behavior |
ORPHA:356996 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia |
OMIM:615483 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... |
OMIM:253400 |
| L-2-Hydroxyglutaric Aciduria |
|
Corpus callosum atrophy, Morphological abnormality of the pyramidal tract, Cerebellar atrophy, Gl... |
OMIM:236792 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Dist... |
OMIM:604484 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relatively smaller... |
ORPHA:596 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Cognitive impairment |
OMIM:615989 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Limb ataxia, Axonal degener... |
OMIM:208920 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Morphological abnormality... |
OMIM:608627 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber ... |
ORPHA:401768 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria |
OMIM:619602 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Sensory axonal neuropathy, Morphological abnormality of the pyramidal tract, Distal sensory impai... |
OMIM:256850 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Axonal degeneration, Orthostatic hypotension, Distal sensory impairment, Peripheral axonal degene... |
OMIM:608720 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy |
OMIM:610951 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment, Chorea |
ORPHA:401901 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Cerebellar atrophy |
OMIM:615889 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:603563 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... |
ORPHA:1145 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve ... |
OMIM:604168 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... |
OMIM:615157 |
| Huntington Disease-Like 2 |
|
Apathy, Depression, Anxiety, Chorea, Weight loss, Irritability, Dementia |
OMIM:606438 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... |
OMIM:603511 |
| Adult Krabbe Disease |
|
Ataxia, Acroparesthesia, Morphological abnormality of the corticospinal tract, Morphological abno... |
ORPHA:206448 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
| Parkinson-Dementia Syndrome |
|
Morphological abnormality of the pyramidal tract |
OMIM:260540 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
| Merrf |
|
Optic atrophy, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:616437 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Narcolepsy Type 1 |
|
Transient global amnesia, Obesity |
ORPHA:2073 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology |
OMIM:607225 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Cognitive impairment |
OMIM:615995 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Centra... |
OMIM:255310 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... |
ORPHA:65684 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Type 1 muscle fiber predominance, Intrinsic hand muscle atrophy |
ORPHA:178145 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic gait, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
ORPHA:444099 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis, Skeletal muscle a... |
OMIM:105550 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:600363 |
| Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Dementia |
OMIM:603218 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... |
OMIM:617258 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Scapular winging, Type 1 muscle f... |
ORPHA:169186 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... |
OMIM:607706 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
ORPHA:171863 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Spinocerebellar atrophy, Cerebellar atrophy, Distal amyot... |
OMIM:215470 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety |
OMIM:619191 |
| Spastic Paraplegia 2, X-Linked |
|
Degeneration of the lateral corticospinal tracts, Optic atrophy, Dysmetria |
OMIM:312920 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity, Morphological abnormality of the pyramidal tract, Cerebral c... |
OMIM:238970 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Emotional lability |
OMIM:309585 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Degeneration of the lateral corticospinal tracts, Impaired proprioception, Limb ataxia, Impaired ... |
ORPHA:100999 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... |
OMIM:615368 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
| Spastic Paraplegia 3, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:182600 |
| Amyotrophy, Hereditary Neuralgic |
|
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
ORPHA:171612 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Degeneration of the lateral corticospinal tracts, Limb dysmetria, Limb ataxia, Impaired vibration... |
ORPHA:100989 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Lower limb muscle weakness, Astrocytosis, Optic atrophy, Upper limb muscle... |
ORPHA:225154 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
| Bardet-Biedl Syndrome 10 |
|
Obesity, Cognitive impairment |
OMIM:615987 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Degeneration of the lateral corticospinal tracts, Frontotemporal cerebral atrophy, Impaired vibra... |
ORPHA:171617 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Cerebral atrophy, Morphological abnormality of the pyramidal tract |
ORPHA:83629 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Pauci... |
OMIM:253310 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Impaired vibration sensation in the lower limbs, Axonal degeneration, Positive Romberg si... |
ORPHA:88628 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Hypoplasia of the pons, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Cerebellar atr... |
OMIM:618276 |
| Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Abnormal upper motor neur... |
ORPHA:35689 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Morphological abnormality of the pyramidal tract, Chorea |
OMIM:613135 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Gliosis, Hypsarrhythmia, Astrocytosis |
ORPHA:204 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, EMG: myopathic abnormalities, Rimmed va... |
ORPHA:52430 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, ... |
OMIM:611890 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Gait disturbance, Abnormal upper motor neuron morphology |
OMIM:263570 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
| Dystonia 16 |
|
Morphological abnormality of the pyramidal tract |
OMIM:612067 |
| Adiposis Dolorosa |
|
Depression, Obesity, Anxiety |
OMIM:103200 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Ankle flexion contracture, EEG abnormality, Type 2 muscle fi... |
OMIM:617519 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Cognitive impairment |
OMIM:615983 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Cachexia, Mental deterioration, Anxiety, Chorea, Gait ataxia, Irri... |
OMIM:618093 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Narp Syndrome |
|
Ataxia, Cerebral cortical atrophy, Optic disc pallor, Progressive gait ataxia, Corticospinal trac... |
ORPHA:644 |
| Spastic Paraplegia 4, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:182601 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Gliosis, Abnormal upper motor neuron morphology, Generali... |
ORPHA:275872 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... |
OMIM:604320 |
| Dihydropyrimidinase Deficiency |
|
Morphological abnormality of the pyramidal tract |
OMIM:222748 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebral cortical atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Dysdiadoch... |
OMIM:607259 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... |
OMIM:619574 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Optic neuritis, Scapular winging, Optic atrophy, Ragg... |
ORPHA:254886 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... |
OMIM:607684 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Degeneration ... |
OMIM:604360 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:320355 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Cerebellar atrophy |
OMIM:617672 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... |
ORPHA:258 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Gait ataxia, Morphological abnormality of the pyramidal tract, Chorea |
OMIM:607483 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Diffuse cerebellar atrophy, EEG with periodic lateralized epileptiform ... |
ORPHA:477774 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Astrocytosis |
OMIM:611087 |
| Behavioral Variant Of Frontotemporal Dementia |
|
EEG with continuous slow activity, Astrocytosis |
ORPHA:275864 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait |
ORPHA:2590 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Loss of ambulation |
OMIM:613435 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
| Spastic Paraplegia Type 7 |
|
Lower limb muscle weakness, Optic atrophy, Optic disc pallor, Ragged-red muscle fibers, Cerebella... |
ORPHA:99013 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Degeneration of the lateral corticospinal tracts, Impaired proprioception, Limb ataxia, Impaired ... |
ORPHA:100993 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Ataxia, Cognitive impairment |
OMIM:614947 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Neurodegeneration, Cerebellar atrophy |
ORPHA:438134 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... |
ORPHA:478029 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... |
ORPHA:168782 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Ataxia, Somatic sensory dysfunction, Cognitive impairment |
ORPHA:459033 |
| 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 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, EEG with persistent abnormal rhythmic activity, Abnormal autonomic nervous ... |
ORPHA:282166 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Obesity, Failure to thrive in infancy |
OMIM:613670 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Athetosis |
OMIM:300857 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Atrophy/Degeneration affecting the brai... |
OMIM:612319 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Large for gestational age, Ataxia, Self-injurious behavior, Aggressive behavior |
OMIM:616116 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... |
OMIM:609560 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Abnormal pons morphology, EMG: myopathic abnormalities, Osteoarthr... |
ORPHA:1320 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Keratitis, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoplasia of the pons, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cerebellar h... |
OMIM:615350 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... |
ORPHA:329478 |
| Adrenomyeloneuropathy |
|
Axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Abnormality of cent... |
ORPHA:139399 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Cerebellar atrophy |
OMIM:619028 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy, Global brain atrophy |
OMIM:616811 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Cerebellar atrophy, Lower limb hypertonia |
OMIM:610246 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... |
ORPHA:352479 |
| Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Dilated fourth ventricle, Abnormal lower motor neuron morpho... |
ORPHA:276244 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... |
ORPHA:397744 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, EEG abnormality, Abnormal upper motor neuron morphology |
OMIM:221770 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Bardet-Biedl Syndrome 16 |
|
Obesity, Cognitive impairment |
OMIM:615993 |
| 11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Scapuloperone... |
ORPHA:206559 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... |
ORPHA:171439 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal cerebellum morphology, Generalized amyotrophy, Abnormal upper motor neuron morphology, L... |
OMIM:601162 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... |
OMIM:205100 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... |
OMIM:608931 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, EEG abnormality, Herpes simplex encephalitis |
OMIM:613002 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance |
OMIM:617336 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Aicardi-Goutieres Syndrome 1 |
|
Cerebral atrophy, Morphological abnormality of the pyramidal tract |
OMIM:225750 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Scapuloperoneal amyot... |
OMIM:181405 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Gliosis, Decreased nerve conduction velocity, Orthostatic hypotension, ... |
OMIM:118301 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... |
OMIM:601462 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Aggressive behavior |
ORPHA:329249 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy |
OMIM:603034 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Ataxia, Impaired vibratory sensation, Morphological abnormality of the pyramidal tract, Distal se... |
OMIM:302900 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Skin rash, Proximal muscle weakness in lower limbs, EMG: myopathic abnorma... |
ORPHA:206569 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Myopathy, Increased variability in muscle fiber diameter, Abnormal auditory evoked... |
OMIM:125250 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Anxiety |
OMIM:618725 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Ragged-red muscle fibers, Cerebellar atrophy, Myopathy, Generaliz... |
ORPHA:352447 |
| Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction, Ataxia, Morphological abnormality of the pyramidal tr... |
OMIM:601992 |
| Neurocutaneous Melanocytosis |
|
EEG abnormality, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Infectious encephalit... |
ORPHA:2481 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:258450 |
| Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Memory impairment, Cognitive impairment |
ORPHA:369873 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy |
OMIM:300894 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Optic atrophy, Ataxia, Morphological abnormality of the pyramidal tract |
OMIM:612199 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, Agenesis of corp... |
ORPHA:255138 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Obesity, Abnormal aggressive, impuls... |
ORPHA:3077 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Optic atrophy, Ragged-red muscle fibers, Inc... |
OMIM:252011 |
| Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
| Nemaline Myopathy 3 |
|
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Limb muscle weak... |
OMIM:161800 |
| New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, Cerebellar edema, EEG with generalized epileptiform discharges, EE... |
ORPHA:363558 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, EMG: myopathic abnormalities, Upper limb muscle weakness, Type 1 muscle fiber p... |
ORPHA:98913 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita |
OMIM:608930 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis, Aplasia/Hypoplasia of the cerebellum |
ORPHA:79314 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Decreased amplitude of sensory action potentials, Ataxia, Morphological abnormality of the pyrami... |
OMIM:229310 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... |
OMIM:254090 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Abnormal cerebellum morphology, Lower-limb joint contracture, Musc... |
ORPHA:300605 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Dysmetria, Neurodegeneration, Cerebellar atrophy |
OMIM:615491 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy |
OMIM:605809 |
| Cockayne Syndrome Type 3 |
|
Flexion contracture, Astrocytosis, Optic disc pallor, Dense calcifications in the cerebellar dent... |
ORPHA:90324 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Happy demeanor, Ataxia, Inappropriate laughter |
ORPHA:411515 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... |
OMIM:500013 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Cerebral atrophy, Axonal degeneration, Optic atrophy, Choreoathetosis, Global brain atrophy |
OMIM:278800 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Gliosis, Cerebellar atrophy, Astrocytosis |
OMIM:203700 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:254210 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98853 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy |
OMIM:540000 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Neurogenic bladder, EEG abnormality, Type 2 muscl... |
OMIM:619173 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... |
OMIM:616867 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Decreased nerve conduction velocity, Type 2 muscle fiber atrophy, Type 1 muscle ... |
ORPHA:319514 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Abnormal cerebellar cor... |
ORPHA:70595 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... |
ORPHA:536516 |
| Morgagni-Stewart-Morel Syndrome |
|
Cognitive impairment, Depression, Memory impairment, Suicidal ideation, Obesity |
ORPHA:77296 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand |
OMIM:175700 |
| Adiposis Dolorosa |
|
Depression, Anxiety, Memory impairment, Paresthesia, Obesity |
ORPHA:36397 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Increased variability in muscle fiber diameter, Decrea... |
OMIM:619026 |
| Central Precocious Puberty |
|
Increased body weight, Obesity, Overgrowth |
ORPHA:759 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Skeletal mu... |
OMIM:615418 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Ataxia, Decreased nerve conduction velocity, Axonal degeneration, Optic atrophy... |
ORPHA:909 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Insulinoma |
|
Increased body weight, Anxiety, Paresthesia, Transient global amnesia, Abnormality of pain sensation |
ORPHA:97279 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Polymicrogyria, Optic atrophy, Agyria, Type II lissencephaly, Lissencephaly, Pachygyria, Agenesis... |
OMIM:253800 |
| Kanzaki Disease |
|
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration |
OMIM:609242 |
| Japanese Encephalitis |
|
Abnormal pons morphology, EEG abnormality, Hyperintensity of MRI T2 signal of the spinal cord, Pa... |
ORPHA:79139 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity, Anxiety, Aggressive behavior |
OMIM:301013 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... |
ORPHA:171430 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
ORPHA:803 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the extraocular muscles, Decreased sensory nerve conduction velocity, Decreased mo... |
ORPHA:298 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Idiopathic Intracranial Hypertension |
|
Abnormal emotion/affect behavior, Obesity, Depression |
ORPHA:238624 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... |
OMIM:157640 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
| Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Abnormal optic ... |
ORPHA:448237 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita |
OMIM:619334 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Hypoglycosylation of alpha-dystroglycan, EEG with focal spike waves, Ce... |
ORPHA:370997 |
| Poliomyelitis |
|
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Myelitis, Lower limb muscle w... |
ORPHA:2912 |
| Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... |
ORPHA:171436 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Cerebellar vermis... |
OMIM:619461 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Progressive language deterioration, Self-mutilation, Mental deterioration, Low frustratio... |
ORPHA:163681 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Brain atrophy, Neurodegeneration, Diffuse cerebral atrophy, Cerebellar atrophy, Agenesis of corpu... |
OMIM:214150 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Distal amyotrophy, Optic atrophy, Abnormal lower motor neuron morphology, Cerebellar atrophy, Sca... |
OMIM:614298 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Rhabdomyolysis, Tubulointerstitial nephritis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
EEG abnormality, Rhabdomyolysis, Ragged-red muscle fibers, Tubulointerstitial nephritis, Cerebell... |
OMIM:124000 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Neurodegeneration, Agenesis of corpus callosum, Cerebell... |
OMIM:616239 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Infectious encephalitis |
OMIM:616532 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
| Gm2 Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Neurodegeneration, Chorea |
ORPHA:309246 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Cognitive impairment |
OMIM:612463 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Neurodegeneration, Agenesis of corpus callosum |
OMIM:618476 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypomimic face, Astrocytosis |
ORPHA:309854 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Choreoathetosis, Neurodegeneration, Chorea |
OMIM:606159 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Truncal ataxia, Neurodegeneration, Limb ataxia |
OMIM:300100 |
| Hsd10 Disease, Infantile Type |
|
Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, Choreoathetosis, Frontotemporal ce... |
ORPHA:391428 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebral atrophy, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Chorea, Gait ataxia, Cerebell... |
OMIM:610217 |
| Perrault Syndrome 4 |
|
Obesity, Gait ataxia, Disproportionate tall stature, Cognitive impairment |
OMIM:615300 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, EEG with burst suppression, Hypsarrhyth... |
OMIM:619036 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Ataxia, Neurodegeneration, Cerebellar atrophy |
OMIM:615919 |
| Smith-Magenis Syndrome |
|
Increased body weight, Head-banging, Impaired pain sensation, Self-mutilation |
OMIM:182290 |
| Neuromuscular Oculoauditory Syndrome |
|
Muscle fiber necrosis, Decreased nerve conduction velocity, EMG: myopathic abnormalities, Calf mu... |
OMIM:618733 |
| Wilson Disease |
|
Failure to thrive, Depression, Hypersexuality, Aggressive behavior, Increased body weight, Weight... |
ORPHA:905 |
| Leptin Receptor Deficiency |
|
Obesity, Aggressive behavior |
OMIM:614963 |
| Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Depression, Increased body weight, Abdominal obesity |
OMIM:615954 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Depression, Increased body weight, Emotional lability |
OMIM:615830 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Neurodegeneration, Chorea |
OMIM:272750 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Pancreatitis, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Proximal amyotrophy |
OMIM:159400 |
| Supranuclear Palsy, Progressive, 1 |
|
Gliosis, Astrocytosis, Retrocollis |
OMIM:601104 |
| Polymyositis |
|
Pericarditis, Abnormal muscle fiber morphology, Arthritis |
ORPHA:732 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal... |
ORPHA:79083 |
| Avian Influenza |
|
Myelitis, Rhabdomyolysis, Hepatitis, Infectious encephalitis, Pneumonia, Conjunctivitis |
ORPHA:454836 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index |
OMIM:614450 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Chronic otitis media, Type 1 muscle fiber predomi... |
OMIM:612949 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight, Self-injurious behavior, Aggressive behavior |
OMIM:300860 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... |
ORPHA:502423 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Cerebellar atrophy |
OMIM:607426 |
| Smith-Magenis Syndrome |
|
Impaired pain sensation, Corticospinal tract hypoplasia |
ORPHA:819 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Infectious encephalitis, Flexion contracture |
ORPHA:1194 |
| Congenital Myasthenic Syndrome |
|
Muscle fiber atrophy, EEG with polyspike wave complexes, EMG: myopathic abnormalities, Limb-girdl... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Muscle fiber atrophy, EEG with polyspike wave complexes, EMG: myopathic abnormalities, Limb-girdl... |
ORPHA:98914 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Mental deterioration, Memory impairment, Emotional lability, Obesity, Overweight, Dementia |
ORPHA:2822 |
| Pfapa Syndrome |
|
Infectious encephalitis, Arthritis |
ORPHA:42642 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi... |
ORPHA:36234 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot ... |
ORPHA:98908 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Cognitive impairment, Depression, Memory impairment, Emotional lability, Incre... |
ORPHA:189427 |
| Cysticercosis |
|
Iridocyclitis, Abnormal skeletal muscle morphology, Infectious encephalitis, Spinal arachnoid cys... |
ORPHA:1560 |
| Overlap Myositis |
|
Rheumatoid arthritis, Arthritis, Perifascicular muscle fiber atrophy, Distal lower limb muscle we... |
ORPHA:206572 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormal cerebellum morphology, Sinusitis, Pustule, Myocardial necrosis... |
ORPHA:68 |
| Genetic Recurrent Myoglobinuria |
|
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... |
ORPHA:99845 |
| Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Anxiety, Aggressive behavior, Emotional lability, Obesity, Low frustration tolerance |
OMIM:612469 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia |
OMIM:618321 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Increased body weight, Progressive neurologic deterioration |
ORPHA:263455 |
| Adrenocortical Carcinoma |
|
Anxiety, Panic attack, Increased body weight, Weight loss, Irritability |
ORPHA:1501 |
| Hartnup Disease |
|
EEG abnormality, Infectious encephalitis, Skin rash |
ORPHA:2116 |
| Primary Pigmented Nodular Adrenocortical Disease |
