| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... |
OMIM:607641 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Paresthesia, Acroparesthesia |
ORPHA:356 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Impaired distal vibrat... |
OMIM:614436 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance |
ORPHA:247604 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere... |
ORPHA:95434 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| 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 Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
| Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... |
OMIM:611067 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:614373 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Corticospinal tract atrophy, Ataxia |
OMIM:551500 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
ORPHA:98856 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
| Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Distal am... |
OMIM:253400 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type 1 fib... |
ORPHA:596 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance |
OMIM:608030 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Polymicrogyria, Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts |
OMIM:603563 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts |
OMIM:600363 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Chorea, Axonal... |
OMIM:604168 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Optic atrophy, Central core regions in muscle fib... |
ORPHA:401768 |
| Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion ... |
OMIM:248800 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Abnormal pyr... |
ORPHA:206448 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| Spastic Paraplegia 2, X-Linked |
|
Optic atrophy, Dysmetria, Degeneration of the lateral corticospinal tracts |
OMIM:312920 |
| 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 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... |
ORPHA:65684 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
| Narcolepsy Type 1 |
|
Transient global amnesia, Obesity |
ORPHA:2073 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Spastic Paraplegia 3, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts |
OMIM:182600 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder... |
OMIM:603511 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Bradykinesia, Falls, Shuffling gait, Spinocerebellar tract degeneration, Sh... |
ORPHA:412066 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, G... |
OMIM:105550 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers, Optic atrophy |
ORPHA:551 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment |
OMIM:616155 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts |
ORPHA:444099 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar at... |
OMIM:215470 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb ataxia, Degenerati... |
ORPHA:100999 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m... |
ORPHA:35689 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
| Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Impaired vibration sensation in the lower limbs, Limb dysmetria, Limb ataxia, Degeneration of the... |
ORPHA:100989 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Loss of ambulation, Spastic gait |
OMIM:606353 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... |
ORPHA:169186 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts |
ORPHA:171863 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity |
OMIM:309585 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s... |
OMIM:615368 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy |
OMIM:162100 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Optic atrophy, Astrocytosis, Upper limb muscle weakness, Basal ganglia gliosis, Lower limb muscle... |
ORPHA:225154 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Degeneration of the lateral corticospinal tracts, Impaired vi... |
OMIM:607259 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
| 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 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... |
OMIM:604360 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts |
ORPHA:171612 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal pyramidal tract morphology, Cerebral atrophy |
ORPHA:83629 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep... |
ORPHA:88628 |
| Narp Syndrome |
|
Optic disc pallor, Ataxia, Progressive gait ataxia, Corticospinal tract atrophy, Cerebral cortica... |
ORPHA:644 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Muscle fi... |
OMIM:253700 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Spastic Paraplegia 4, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts |
OMIM:182601 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Gliosis, Astrocytosis, Hypsarrhythmia |
ORPHA:204 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Hypoplasia of the pons, Skeletal muscle atrophy, Cerebellar atrophy, Type 1 muscle fiber predomin... |
OMIM:618276 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... |
ORPHA:52430 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... |
OMIM:611890 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers, Abnormal cerebellum morphology |
OMIM:618242 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Cognitive impairment |
OMIM:615983 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity, Aggressive behavior |
OMIM:620270 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Astrocytosis, EEG with continuous slow activity |
ORPHA:100070 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber... |
OMIM:617519 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Gliosis, Generalized amyotrophy, Abnormal upper motor neu... |
ORPHA:275872 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Frontotemporal cerebral atrophy, Impaired vibration sensation in the lower limbs, Degeneration of... |
ORPHA:171617 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener... |
OMIM:604320 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab... |
OMIM:614399 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
| Adiposis Dolorosa |
|
Obesity, Depression |
OMIM:103200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... |
OMIM:619574 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:320355 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Astrocytosis, Macroglos... |
ORPHA:258 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Astrocytosis |
OMIM:611087 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Gait disturbance |
OMIM:263570 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fiber... |
ORPHA:254886 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle... |
ORPHA:99013 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Decreased compound muscle action potential amplitude, Osteoarthritis, Bronchiec... |
OMIM:620080 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Inability to walk, Difficulty walking, Waddling gait |
ORPHA:2590 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb ataxia, Degenerati... |
ORPHA:100993 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
EEG with periodic lateralized epileptiform discharges, Diffuse cerebellar atrophy, Ragged-red mus... |
ORPHA:477774 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, EEG with continuous slow activity |
ORPHA:275864 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... |
ORPHA:478029 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment |
ORPHA:459033 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, EEG with persistent abnormal rhythmic activity, Abnormal autonomic nervous ... |
ORPHA:282166 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal amyotrophy, Proximal amyotrophy |
OMIM:608627 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Cerebral cortical atrophy |
OMIM:617672 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Atrophy/Degeneratio... |
OMIM:612319 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... |
ORPHA:3077 |
| Central Core Disease |
|
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... |
ORPHA:597 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Aggressive behavior, Large for gestational age, Self-injurious behavior, Agitation |
OMIM:616116 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp... |
ORPHA:369873 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:616811 |
| 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 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Neurogenic bladder, Distal lower... |
ORPHA:276244 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Ab... |
ORPHA:1320 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... |
ORPHA:139399 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615889 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyo... |
OMIM:615084 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, Agenesis of corp... |
ORPHA:255138 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Increased variability in muscle fiber diameter |
OMIM:617915 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H... |
OMIM:205100 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
EEG abnormality, Herpes simplex encephalitis, Gliosis |
OMIM:613002 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, EEG abnormality, Gliosis |
OMIM:221770 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
| Congenital Myopathy 24 |
|
Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance |
OMIM:617336 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Cerebellar atrophy |
OMIM:619028 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Recurrent pneumonia, Skeletal mu... |
OMIM:613327 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, G... |
OMIM:616239 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Myopathy, Arthritis, I... |
ORPHA:397744 |
| Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Cerebellar edema, Multifocal epileptiform discharges, EEG with genera... |
ORPHA:363558 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... |
OMIM:601462 |
| Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Optic atrophy, Increased variability in muscle fiber diameter, Abnormal auditory evoked... |
OMIM:125250 |
| Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atroph... |
OMIM:258450 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Fiber type grouping, Optic atrophy, Distal amyotrophy, Cerebellar cortical at... |
OMIM:271245 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Proximal muscle weak... |
ORPHA:206569 |
| Neurocutaneous Melanocytosis |
|
EEG abnormality, Syringomyelia, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Infect... |
ORPHA:2481 |
| Leptin Receptor Deficiency |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia |
OMIM:614963 |
| L-2-Hydroxyglutaric Aciduria |
|
Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis |
ORPHA:79314 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired proprioception, Cerebral atrop... |
OMIM:615491 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Optic disc pallor, Dandy-Walker malformation |
OMIM:617235 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular noncompaction, Inc... |
OMIM:252011 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Neurogenic bladder, Optic disc pallor, Flexion contracture, Astrocytosis... |
ORPHA:90324 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokin... |
OMIM:615157 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Axonal degeneration, Optic atrophy, Cerebral atrophy, Choreoathetosis, Global brain atrophy |
OMIM:278800 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Distal lower limb muscle... |
OMIM:500013 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facia... |
ORPHA:352447 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Agyria, Hypoplasia of the pyramidal tract, Optic atrophy, Lissencephaly, Pachygyria, Agenesis of ... |
OMIM:253800 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous... |
OMIM:256600 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal cerebellum morphology, Upper-lim... |
ORPHA:300605 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Low frustration tolerance, Progressive langu... |
ORPHA:163681 |
| Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment |
OMIM:616267 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Gait disturbance, Spastic gait, Gait ataxia |
OMIM:601162 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Hypsarrhythmia |
OMIM:620240 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
| Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98853 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Neurogenic blad... |
OMIM:619173 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Increased body weight, Attention deficit hyperactivity disorder |
ORPHA:589905 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Atrophy/Degeneration in... |
ORPHA:70595 |
| Optic Atrophy 11 |
|
Optic nerve hypoplasia, EEG with focal sharp waves, Optic atrophy, Facial diplegia, Cerebellar hy... |
OMIM:617302 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Optic neuropathy, Abn... |
ORPHA:909 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hypoplasia of the pons, Flexion contracture, Optic atrophy, Muscular dystrophy, Cerebellar hypopl... |
OMIM:613154 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased motor nerv... |
ORPHA:79139 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
| Idiopathic Intracranial Hypertension |
|
Abnormal emotion, Obesity, Depression |
ORPHA:238624 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
| Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Arthritis, Abnormal optic disc morphology, Conjunctivitis, In... |
ORPHA:448237 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... |
ORPHA:2912 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... |
OMIM:182290 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Optic atrophy, Dist... |
OMIM:614298 |
| Morgagni-Stewart-Morel Syndrome |
|
Memory impairment, Obesity, Cognitive impairment, Depression |
ORPHA:77296 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Brain atrophy, Agenesis of corpu... |
OMIM:214150 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
| Insulinoma |
|
Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensation, Poly... |
ORPHA:97279 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Depression |
OMIM:615954 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Abnor... |
ORPHA:298 |
| Adiposis Dolorosa |
|
Memory impairment, Paresthesia, Obesity, Depression |
ORPHA:36397 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Smith-Magenis Syndrome |
|
Corticospinal tract hypoplasia, Impaired pain sensation |
ORPHA:819 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Choreoathetosis, Chorea, Neurodegeneration, Ataxia |
OMIM:606159 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis, Hypomimic face |
ORPHA:309854 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity,... |
ORPHA:98794 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Neu... |
ORPHA:391428 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Tubulointerstitial nephritis, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Cerebellar vermis hypoplasia, Ankle flexion contracture, Elbow flexion contracture, Increased var... |
OMIM:619461 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Neurodegeneration, Limb ataxia, Truncal ataxia |
OMIM:300100 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy |
ORPHA:369840 |
| Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia |
OMIM:615300 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Gliosis, Astrocytosis |
OMIM:203700 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Cerebral atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Neurode... |
OMIM:610217 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
EEG with burst suppression, Type 1 muscle fiber atrophy, Hypsarrhythmia, Type 2 muscle fiber pred... |
OMIM:619036 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Ataxia, Overweight, Obesity, Emotional lability, Dementia, Dysphagia, Menta... |
ORPHA:2822 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi... |
OMIM:618733 |
| Avian Influenza |
|
Pneumonia, Rhabdomyolysis, Hepatitis, Conjunctivitis, Infectious encephalitis, Myelitis |
ORPHA:454836 |
| Angelman Syndrome Due To A Point Mutation |
|
Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, R... |
ORPHA:411511 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Failure to t... |
ORPHA:905 |
| Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
| Supranuclear Palsy, Progressive, 1 |
|
Gliosis, Retrocollis, Astrocytosis |
OMIM:601104 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Increased body weight, Depression |
OMIM:615830 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglossia, Congenital contr... |
OMIM:613150 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Pancreatitis |
ORPHA:2348 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Agitation, Increased body weight, Progressive neurologic deterioration, Large for gestational age |
ORPHA:263455 |
| Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Flexion contracture, Infectious encephalitis, Camptodactyly of finger |
ORPHA:1194 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr... |
ORPHA:79083 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Proximal amyotrophy |
OMIM:159400 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion... |
OMIM:612469 |
| Polymyositis |
|
Arthritis, Pericarditis, Abnormal muscle fiber morphology |
ORPHA:732 |
| Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Bacterial Toxic-Shock Syndrome |
|
Myositis, Sinusitis, Fasciitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:607426 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Depression, Emotional lability, Abdominal obesity, Cognitive impairment, M... |
ORPHA:189427 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
| Cysticercosis |
|
Calcification of muscles, Iridocyclitis, Spinal arachnoid cyst, Spinal cord lesion, Abnormal skel... |
ORPHA:1560 |
| Congenital Myasthenic Syndrome |
|
EEG with polyspike wave complexes, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber a... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
EEG with polyspike wave complexes, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber a... |
ORPHA:98914 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Cerebellar vermis hypoplasia, Muscular dystrophy,... |
OMIM:616538 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615919 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Sinusitis, Facial palsy, Pneumonia, P... |
ORPHA:68 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
| Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Neurodegeneration |
OMIM:618321 |
| Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Chronic pancreatitis, Generalized lim... |
ORPHA:98908 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... |
ORPHA:139402 |
| Hartnup Disease |
|
Skin rash, EEG abnormality, Infectious encephalitis |
ORPHA:2116 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Arthritis, Rheumato... |
ORPHA:206572 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Impaired temperature sensation, Increased body weight, Abdominal obesity, Cognitive ... |
ORPHA:398069 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Optic atrophy, Mac... |
ORPHA:354 |
| Aspergillosis |
<
