| 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 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... |
OMIM:607641 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Morphological abnormality of the pyramidal tract, Ataxia |
OMIM:301840 |
| Persistent Idiopathic Facial Pain |
|
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation |
ORPHA:398147 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... |
OMIM:254110 |
| Spinocerebellar Ataxia 13 |
|
Gait ataxia, Limb dysmetria, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, Morp... |
OMIM:605259 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ability to walk, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Tibial Muscular Dystrophy |
|
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... |
ORPHA:609 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:614373 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... |
ORPHA:2593 |
| Dystonia 9 |
|
Episodic ataxia, Choreoathetosis, Paresthesia, Morphological abnormality of the pyramidal tract |
OMIM:601042 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degene... |
OMIM:602433 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... |
OMIM:158600 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... |
OMIM:606482 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... |
OMIM:608423 |
| Severe Primary Trimethylaminuria |
|
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety |
ORPHA:468726 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... |
OMIM:608358 |
| Central Core Disease Of Muscle |
|
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... |
OMIM:117000 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... |
ORPHA:611 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... |
OMIM:617158 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... |
ORPHA:280397 |
| Myopathy, Distal, 5 |
|
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting |
OMIM:617030 |
| Vacuolar Neuromyopathy |
|
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... |
OMIM:601846 |
| Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... |
OMIM:616852 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... |
OMIM:605820 |
| Gerstmann-Straussler-Scheinker Syndrome |
|
Gait ataxia, Paresthesia, Dysesthesia, Acroparesthesia, Morphological abnormality of the pyramida... |
ORPHA:356 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Impaired distal vibr... |
OMIM:614436 |
| Myopathy, Centronuclear, 1 |
|
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... |
OMIM:160150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... |
OMIM:609115 |
| Gne Myopathy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... |
ORPHA:602 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... |
OMIM:618655 |
| Spinocerebellar Ataxia 10 |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, ... |
OMIM:603516 |
| Myofibrillar Myopathy 11 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... |
OMIM:619178 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... |
OMIM:613530 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance |
ORPHA:247604 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Amyotrophic Lateral Sclerosis 8 |
|
Morphological abnormality of the pyramidal tract, Neuronal loss in central nervous system, Amyotr... |
OMIM:608627 |
| Huntington Disease-Like 3 |
|
Frontal cortical atrophy, Chorea, Ataxia, Morphological abnormality of the pyramidal tract, Cauda... |
OMIM:604802 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis, EEG with continuous slow activity, Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... |
OMIM:615422 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter |
OMIM:618992 |
| Mental Retardation, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity |
OMIM:616521 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... |
OMIM:618823 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... |
OMIM:500002 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... |
OMIM:214400 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Distal Myopathy, Welander Type |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... |
ORPHA:603 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... |
OMIM:601954 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal lower motor neuron morphology, Progressive cer... |
ORPHA:95434 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... |
OMIM:611067 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Cerebellar atrophy, Morphological abnormality of the pyramidal tract |
OMIM:608768 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... |
ORPHA:86812 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Corticospinal tract atrophy, Ataxia |
OMIM:551500 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... |
ORPHA:206549 |
| Salih Myopathy |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... |
OMIM:611705 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Morphological abnormality of the... |
OMIM:256600 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... |
OMIM:256850 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... |
OMIM:618848 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... |
OMIM:255160 |
| Hereditary Myopathy With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... |
ORPHA:178464 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Cerebral atrophy, Degeneration of anterior horn cells, Corticospinal tract pallor |
OMIM:600333 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Abnormal sensory nerve conduction ve... |
ORPHA:276435 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612577 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... |
ORPHA:437572 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... |
OMIM:255320 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... |
OMIM:167320 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment, Decreased nu... |
OMIM:604484 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Corpus callosum atrophy, Morphological abnormality of the pyramidal tract, Gl... |
OMIM:236792 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... |
OMIM:615424 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... |
OMIM:609200 |
| Bardet-Biedl Syndrome 12 |
|
Cognitive impairment, Obesity |
OMIM:615989 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Optic atrophy,... |
ORPHA:401768 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal amyotrophy |
OMIM:271150 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... |
ORPHA:457050 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Truncal ataxia, Axonal degeneration, Limb ataxia, Ataxia, Cerebellar atrophy, Decrea... |
OMIM:208920 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment |
OMIM:616155 |
| Oculopharyngodistal Myopathy 2 |
|
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... |
OMIM:618940 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Aggressive behavior |
ORPHA:356996 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dystonia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper m... |
OMIM:205100 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Distal sensory i... |
OMIM:608720 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... |
ORPHA:34516 |
| Myopathy, Centronuclear, 2 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... |
OMIM:255200 |
| Creutzfeldt-Jakob Disease |
|
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment |
OMIM:123400 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment |
ORPHA:401901 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... |
ORPHA:1145 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... |
OMIM:618484 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration |
OMIM:610951 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:302800 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy |
ORPHA:270 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Peripheral hypomyeli... |
OMIM:604168 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria, A... |
OMIM:615157 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:603563 |
| Huntington Disease-Like 2 |
|
Dementia, Depression, Chorea, Apathy, Weight loss, Irritability, Anxiety |
OMIM:606438 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... |
OMIM:248800 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615889 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Parkinson-Dementia Syndrome |
|
Morphological abnormality of the pyramidal tract |
OMIM:260540 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers, Optic atrophy |
ORPHA:551 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Impaired tactile sensation, Ataxia, Acroparesthes... |
ORPHA:206448 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Spinal Muscular Atrophy, Type Ii |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy |
OMIM:253550 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy |
OMIM:616437 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... |
ORPHA:486815 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... |
OMIM:105400 |
| Bardet-Biedl Syndrome 18 |
|
Cognitive impairment, Obesity |
OMIM:615995 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... |
ORPHA:399058 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... |
OMIM:255310 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology |
OMIM:607225 |
| Myopathy, Distal, 1 |
|
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... |
OMIM:160500 |
| Narcolepsy Type 1 |
|
Transient global amnesia, Obesity |
ORPHA:2073 |
| Zebra Body Myopathy |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... |
ORPHA:97240 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... |
OMIM:603511 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Distal upper limb amyotrophy, Degeneration of anterio... |
ORPHA:65684 |
| Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
| Parkinsonism-Dystonia, Infantile, 1 |
|
Chorea, Morphological abnormality of the pyramidal tract |
OMIM:613135 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... |
ORPHA:178400 |
| Autosomal Recessive Centronuclear Myopathy |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... |
ORPHA:169186 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle a... |
OMIM:105550 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:613954 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy |
ORPHA:178145 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy |
OMIM:618129 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Dementia, Depression, Chorea, Apathy, Anxiety, Cognitive impairment, Athetosis |
OMIM:615483 |
| Huntington Disease-Like 1 |
|
Aggressive behavior, Dementia, Depression, Chorea, Anxiety, Dysmetria |
OMIM:603218 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Rimmed vacuoles, Flexion contracture |
OMIM:300696 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Shoulder girdle muscle wea... |
OMIM:606070 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... |
OMIM:617258 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
ORPHA:444099 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:600363 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Cognitive impairment, Obesity |
OMIM:619058 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Ataxia, Anxiety, Dysmetria, Mental deterioration |
OMIM:619191 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:606353 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Cerebral cortical atrophy, Impaired vibratory sensation, Morphological abnormality of the pyramid... |
OMIM:238970 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... |
OMIM:617072 |
| Distal Myopathy, Tateyama Type |
|
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... |
ORPHA:488650 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystrog... |
ORPHA:280333 |
| Amyotrophy, Hereditary Neuralgic |
|
Axonal degeneration, Brachial plexus neuropathy, Peripheral axonal degeneration |
OMIM:162100 |
| Nemaline Myopathy 6 |
|
Myopathy, Nemaline bodies, Limb muscle weakness |
OMIM:609273 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
EMG: myopathic abnormalities, Proximal amyotrophy, Cerebellar cyst, Congenital muscular dystrophy... |
ORPHA:370980 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... |
OMIM:253601 |
| Nemaline Myopathy 4 |
|
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... |
OMIM:609285 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... |
ORPHA:399086 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... |
OMIM:609456 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
ORPHA:171863 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Cerebellar atrophy, Distal amyotrophy, Spinocerebellar at... |
OMIM:215470 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis, Lower limb muscle weakness, Optic atrophy, Upper limb muscle... |
ORPHA:225154 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... |
OMIM:619042 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Decrease... |
OMIM:615368 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... |
OMIM:613204 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Degeneration of the lateral corticospinal tracts, Limb ataxia, Impaired vibration sensation in th... |
ORPHA:100999 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... |
OMIM:618654 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... |
ORPHA:598 |
| Spastic Paraplegia 2, X-Linked |
|
Degeneration of the lateral corticospinal tracts, Optic atrophy, Dysmetria |
OMIM:312920 |
| Nemaline Myopathy 2 |
|
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... |
OMIM:256030 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... |
OMIM:608810 |
| Spastic Paraplegia 3, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:182600 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... |
OMIM:616812 |
| 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 ataxia, Limb dysmetria, Impaired vibration... |
ORPHA:100989 |
| Bardet-Biedl Syndrome 10 |
|
Cognitive impairment, Obesity |
OMIM:615987 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Paucity ... |
OMIM:611890 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Absent brainstem auditory responses, Ge... |
OMIM:617519 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... |
OMIM:616924 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Cerebral atrophy, Morphological abnormality of the pyramidal tract |
ORPHA:83629 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Myopathy, Distal, 3 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... |
OMIM:610099 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Pauci... |
OMIM:253310 |
| Chorea, Benign Hereditary |
|
Chorea, Anxiety |
OMIM:118700 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... |
ORPHA:171617 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Generaliz... |
ORPHA:52430 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... |
OMIM:500009 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Recurrent aspiration pneumonia, Gliosis, Hypsarrhythmia |
ORPHA:204 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration, Decreased nerve conduction velocity |
OMIM:618138 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Positive Romberg sign, Gait ataxia, Ataxia, Abnormal sensory nerve conduction velocity, Impaired ... |
ORPHA:88628 |
| Distal Nebulin Myopathy |
|
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... |
ORPHA:399103 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Spastic gait, Atrophy of th... |
ORPHA:35689 |
| Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content |
OMIM:261750 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:300717 |
| Dystonia 16 |
|
Morphological abnormality of the pyramidal tract |
OMIM:612067 |
| Adult-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... |
ORPHA:171442 |
| Pandas |
|
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... |
ORPHA:66624 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... |
OMIM:612937 |
| Bardet-Biedl Syndrome 5 |
|
Cognitive impairment, Obesity |
OMIM:615983 |
| Adiposis Dolorosa |
|
Obesity, Anxiety, Depression |
OMIM:103200 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Depression, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Cachexia, Mental deter... |
OMIM:618093 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619141 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Autosomal Dominant Centronuclear Myopathy |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... |
ORPHA:169189 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Gait disturbance |
OMIM:263570 |
| Myasthenic Syndrome, Congenital, 14 |
|
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture |
OMIM:616228 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... |
OMIM:603689 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... |
OMIM:605355 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Flexion contracture, Nemaline bodies, Distal amyotroph... |
OMIM:607684 |
| Dihydropyrimidinase Deficiency |
|
Morphological abnormality of the pyramidal tract |
OMIM:222748 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Amyotrophic lateral scleros... |
ORPHA:600 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Generalized amyotrophy, Abnormal lower motor neuron morph... |
ORPHA:275872 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Scapular winging, Optic neuritis, Cerebellar atrophy, Facial palsy, Myopath... |
ORPHA:254886 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... |
OMIM:615490 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Axonal degeneration, Degeneration of anterior horn cells, Decreas... |
OMIM:604320 |
| Spastic Paraplegia 4, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs |
OMIM:182601 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... |
OMIM:616052 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... |
ORPHA:98905 |
| Narp Syndrome |
|
Progressive gait ataxia, Ataxia, Cerebral cortical atrophy, Corticospinal tract atrophy, Optic di... |
ORPHA:644 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, EEG with periodic lateralized epileptiform discharges, Diffuse cerebell... |
ORPHA:477774 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy |
OMIM:617672 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... |
ORPHA:75840 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Increased intramyocellular lipid droplets |
OMIM:612016 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, EEG with continuous slow activity |
ORPHA:275864 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Dysdiadochokinesis, Gait ataxia, Spastic ataxia... |
OMIM:607259 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Ataxia, Cerebral cortical atrophy, Impaired vib... |
OMIM:604360 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis, Facial hypotonia |
OMIM:611087 |
| Autism, Susceptibility To, 18 |
|
Overweight, Anxiety, Tall stature |
OMIM:615032 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:320355 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... |
ORPHA:34515 |
| Childhood-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... |
ORPHA:171439 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cognitive impairment, Obesity |
OMIM:615418 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Astrocytosis, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fibe... |
ORPHA:258 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... |
OMIM:609560 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... |
OMIM:160565 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture |
OMIM:605637 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Degeneration of the lateral corticospinal tracts, Limb ataxia, Impaired vibration sensation in th... |
ORPHA:100993 |
| Childhood Disintegrative Disorder |
|
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... |
ORPHA:168782 |
| Spastic Paraplegia Type 7 |
|
Lower limb hypertonia, Lower limb muscle weakness, Cerebellar atrophy, Ragged-red muscle fibers, ... |
ORPHA:99013 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscular dystrophy, Flexion contracture, Pneumonia, Right ventricular hypertrophy, Calf muscle ps... |
OMIM:253700 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Chorea, Gait ataxia, Facial palsy, Morphological abnormality of the pyramidal tract |
OMIM:607483 |
| Rafiq Syndrome |
|
Aggressive behavior, Obesity |
OMIM:614202 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Abnormal autonomic nervous s... |
ORPHA:478029 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dystonia, Amyotrophic lateral sclerosis, Athetosis |
OMIM:300857 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... |
ORPHA:353 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Cognitive impairment, Somatic sensory dysfunction, Ataxia, Obesity |
ORPHA:459033 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... |
OMIM:300580 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Abnormal autonomic nervous system physiology, Vestibular nystagmus, EEG with persis... |
ORPHA:282166 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... |
ORPHA:353327 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Waddling gait, Abnormal lower motor neuron morphology, Difficulty walking |
ORPHA:2590 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... |
ORPHA:254864 |
| Intermediate Nemaline Myopathy |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... |
ORPHA:171433 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Decreased nerve co... |
ORPHA:329478 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Abnormal upper motor neuron morphology, Dysmetria, Dystonia, Ataxia |
OMIM:607694 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Ataxia, Obesity |
OMIM:614947 |
| Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Failure to thrive in infancy, Anxiety, Obesity |
OMIM:613670 |
| Amish Nemaline Myopathy |
|
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... |
ORPHA:98902 |
| Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... |
ORPHA:597 |
| Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
| Adrenomyeloneuropathy |
|
Dysesthesia, Abnormality of peripheral nervous system electrophysiology, Atrophy/Degeneration inv... |
ORPHA:139399 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atrophy, Axonal degeneration |
OMIM:616811 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... |
ORPHA:352479 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Cerebellar hypoplasia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of... |
OMIM:615350 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... |
ORPHA:424107 |
| Creatine Phosphokinase, Elevated Serum |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Type 2 muscle fiber predominance |
OMIM:619028 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Lower limb muscle weakness, Arthritis, Decreased nerve conduction v... |
ORPHA:397744 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, EEG abnormality, Gliosis |
OMIM:221770 |
| Aicardi-Goutieres Syndrome 1 |
|
Cerebral atrophy, Morphological abnormality of the pyramidal tract |
OMIM:225750 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left ventricular hypertrophy |
OMIM:611556 |
| Machado-Joseph Disease Type 3 |
|
Neurogenic bladder, Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, D... |
ORPHA:276244 |
| Bardet-Biedl Syndrome 16 |
|
Cognitive impairment, Obesity |
OMIM:615993 |
| 11P15.4 Microduplication Syndrome |
|
Aggressive behavior, Obesity |
ORPHA:300305 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Facial pa... |
OMIM:608931 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Spastic Paraplegia 35, Autosomal Recessive |
|
Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brai... |
OMIM:612319 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Proximal amyotrophy, Limb-girdle muscular dystrophy, Scapuloperoneal amyotrophy... |
ORPHA:206559 |
| Myopathy, Myofibrillar, 7 |
|
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... |
OMIM:617114 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... |
OMIM:252011 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fib... |
OMIM:125250 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content |
OMIM:610717 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Obesity |
ORPHA:329249 |
| Laing Early-Onset Distal Myopathy |
|
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... |
ORPHA:59135 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... |
OMIM:181405 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Myopathy, Decreased muscle mass, Limb muscle weakness |
OMIM:603034 |
| Immune-Mediated Necrotizing Myopathy |
|
Skin rash, EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limb... |
ORPHA:206569 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle atrophy, Orthostatic hypotension, Gliosis, Degeneration of anterior horn cells, P... |
OMIM:118301 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:300718 |
| Bethlem Myopathy |
|
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... |
ORPHA:610 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
| Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, EEG abnormality, Encephalitis, Syringomyelia, ... |
ORPHA:2481 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Abnormal cerebellum morphology, Generalized amyotrophy, L... |
OMIM:601162 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... |
OMIM:616470 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers, Weakness of facia... |
ORPHA:352447 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... |
ORPHA:171881 |
| Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Memory impairment, Obesity |
ORPHA:369873 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:300894 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Anxiety, Obesity |
OMIM:618725 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Bipolar affective disorder, Aggressive behavior, Obesity, Irritability, Abnormal fear/anxiety-rel... |
ORPHA:3077 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... |
OMIM:310300 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Periventricular heterotopia, Corticospinal tract hypoplasia, Ataxia, Agenesis of corp... |
ORPHA:255138 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:608930 |
| New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, EEG with temporal epileptiform discharges, Interictal EEG abnormal... |
ORPHA:363558 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
EMG: myopathic abnormalities, Hip flexor weakness, Weakness of the intrinsic hand muscles, Abnorm... |
ORPHA:98913 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98855 |
| Nemaline Myopathy 3 |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fiber predominanc... |
OMIM:161800 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Bipolar affective disorder, Depression |
ORPHA:276630 |
| L-2-Hydroxyglutaric Aciduria |
|
Aplasia/Hypoplasia of the cerebellum, Encephalitis |
ORPHA:79314 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... |
ORPHA:178148 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
EMG: myopathic abnormalities, Generalized amyotrophy, Facial palsy, Muscle fiber necrosis, Ragged... |
OMIM:258450 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
| Friedreich Ataxia 2 |
|
Morphological abnormality of the pyramidal tract, Abnormality of peripheral nerve conduction, Imp... |
OMIM:601992 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness |
OMIM:605809 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Abnormality of peripheral nerve conduction, Impaired vibratory sensation, Ataxia, Morphological a... |
OMIM:302900 |
| Bardet-Biedl Syndrome 8 |
|
Cognitive impairment, Obesity |
OMIM:615985 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Type 1 muscle fib... |
OMIM:254090 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria |
OMIM:615491 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Inappropriate laughter, Ataxia, Happy demeanor |
ORPHA:411515 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Morphological abnormality of the pyramidal tract, Optic atrophy, Ataxia |
OMIM:612199 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:254210 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the lower limbs, Amyotrophic lateral sclerosis, Abnormal cerebellum... |
ORPHA:300605 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Neurogenic bladder, Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Dista... |
OMIM:500013 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Astrocytosis, Dense calcifications in the cerebellar dentate nucleus, Flexion... |
ORPHA:90324 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98853 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Morphological abnormality of the pyramidal tract, Decreased amplitude of sensory action potential... |
OMIM:229310 |
| Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... |
OMIM:602771 |
| Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... |
ORPHA:324604 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Increased intramyocellular lipid droplets, Skeletal muscle atrophy |
OMIM:614487 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... |
ORPHA:57 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Type 2 muscle fiber atrophy |
OMIM:601462 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Neurogenic bladder, Type 2 muscle fiber predominance, EEG abnormality, Increased variability in m... |
OMIM:619173 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Early-Onset Schizophrenia |
|
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... |
ORPHA:96369 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy |
OMIM:540000 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Chung-Jansen Syndrome |
|
Anxiety, Impulsivity, Aggressive behavior, Obesity |
OMIM:617991 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Cerebellar atrophy, Gliosis |
OMIM:203700 |
| Myopathic Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... |
ORPHA:536516 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619133 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Atrophy/Degeneration involving the spinal cord, Abnormal cerebellar cor... |
ORPHA:70595 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Decreased n... |
ORPHA:319514 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe |
OMIM:175700 |
| Adiposis Dolorosa |
|
Paresthesia, Depression, Anxiety, Memory impairment, Obesity |
ORPHA:36397 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Increased body weight |
ORPHA:276608 |
| Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impair... |
ORPHA:309246 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... |
OMIM:616867 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Abnormal neuron branching, Flexion contracture, Skeletal muscle... |
ORPHA:367 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Abnormal lower motor neuron morphology, Cerebellar atrophy, Distal amyotrophy, ... |
OMIM:614298 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... |
ORPHA:119 |
| Central Precocious Puberty |
|
Overgrowth, Increased body weight, Obesity |
ORPHA:759 |
| Insulinoma |
|
Paresthesia, Abnormality of pain sensation, Anxiety, Increased body weight, Transient global amnesia |
ORPHA:97279 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration, Distal sensory impairment |
OMIM:609242 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy |
ORPHA:3068 |
| Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Ataxia, Somatic sensory dysfunction, Cerebellar atrophy, Abnormal auditory ... |
ORPHA:909 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Flexion contracture, Decreased sensory nerve conductio... |
OMIM:619026 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pachygyria, Type II lissencephaly, Polymicrogyria, Agyria, Hypoplasia of the pyramidal tract, Opt... |
OMIM:253800 |
| Poliomyelitis |
|
Myelitis, Abnormal motor nerve conduction velocity, Lower limb muscle weakness, Hypoplasia of the... |
ORPHA:2912 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity |
OMIM:618406 |
| Severe Congenital Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... |
ORPHA:171430 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
ORPHA:803 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Depression, Emotional lability, Truncal obesity, Anxiety, Mental deterioration |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Depression, Emotional lability, Truncal obesity, Anxiety, Mental deterioration |
OMIM:610489 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, EE... |
ORPHA:79139 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Atrophy/Degeneration involving the spinal cord, Muscle fiber necrosis, ... |
OMIM:607459 |
| Idiopathic Intracranial Hypertension |
|
Abnormal emotion/affect behavior, Obesity, Depression |
ORPHA:238624 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Decreased sens... |
ORPHA:298 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... |
OMIM:157640 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter |
OMIM:619334 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
| Bardet-Biedl Syndrome 17 |
|
Cognitive impairment, Obesity |
OMIM:615994 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar cyst, Cerebellar vermis hypoplasia, Hypoglycosylation of alpha-dystroglycan, EEG with ... |
ORPHA:370997 |
| Typical Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... |
ORPHA:171436 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neurodegeneration, Agenesis of corpus callosum, Neuronal loss in central nerv... |
OMIM:616239 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Cholangitis, Cerebellar atrophy, Tubulointerstitial nephritis, EEG abnormality, R... |
OMIM:124000 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Cerebellar atrophy |
OMIM:607426 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Chorea, Cerebral atrophy, Ataxia, Neurodegeneration |
OMIM:618321 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight, Aggressive behavior |
OMIM:300860 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Encephalitis |
OMIM:616532 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Neurodegeneration, Choreoathetosis, Ataxia |
OMIM:606159 |
| Pseudopseudohypoparathyroidism |
|
Cognitive impairment, Obesity |
OMIM:612463 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Agenesis of corpus callosum, Ataxia |
OMIM:618476 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis, Hypomimic face |
ORPHA:309854 |
| Joubert Syndrome 32 |
|
Tall stature, Large for gestational age, Ataxia |
OMIM:617757 |
| Hsd10 Disease, Infantile Type |
|
Neurodegeneration, Cerebral atrophy, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, C... |
ORPHA:391428 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... |
OMIM:616866 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Limb ataxia, Neurodegeneration, Truncal ataxia |
OMIM:300100 |
| Wilson Disease |
|
Aggressive behavior, Depression, Hypersexuality, Weight loss, Increased body weight, Failure to t... |
ORPHA:905 |
| Smith-Magenis Syndrome |
|
Head-banging, Self-mutilation, Increased body weight, Impaired pain sensation |
OMIM:182290 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... |
ORPHA:502423 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 1 muscle fiber atrophy, Hypsarrhythmia, EEG with burst suppression, Congenital contracture, ... |
OMIM:619036 |
| Leptin Receptor Deficiency |
|
Aggressive behavior, Obesity |
OMIM:614963 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Self-injurious behavior, Aggressive behavior, Obesity |
OMIM:600430 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615919 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysi... |
ORPHA:368 |
| Neuromuscular Oculoauditory Syndrome |
|
EMG: myopathic abnormalities, Decreased amplitude of sensory action potentials, Wrist flexion con... |
OMIM:618733 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... |
ORPHA:79083 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Proximal amyotrophy |
OMIM:159400 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Gait ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy,... |
OMIM:610217 |
| Immunodeficiency 37 |
|
Encephalitis, Colitis |
OMIM:616098 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Pancreatitis |
ORPHA:2348 |
| Perrault Syndrome 4 |
|
Cognitive impairment, Disproportionate tall stature, Gait ataxia, Obesity |
OMIM:615300 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Cerebellar cyst, Skeletal muscle hypertrophy, Muscular dystrophy, Partial absence o... |
OMIM:613150 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Gout |
OMIM:232800 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Depression, Increased body weight, Emotional lability |
OMIM:615830 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Depression |
OMIM:615954 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Cerebral atrophy, Neurodegeneration |
OMIM:272750 |
| Subacute Sclerosing Panencephalitis |
|
Encephalitis |
OMIM:260470 |
| Zika Virus Disease |
|
Skin rash, Myelitis, Maculopapular exanthema, Conjunctivitis, Encephalitis, Abnormality of the op... |
ORPHA:448237 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Pericarditis, Arthritis |
ORPHA:732 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Decreased m... |
ORPHA:263297 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
| Avian Influenza |
|
Myelitis, Rhabdomyolysis, Pneumonia, Conjunctivitis, Hepatitis, Encephalitis |
ORPHA:454836 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Encephalitis |
ORPHA:1194 |
| Neutral Lipid Storage Myopathy |
|
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... |
ORPHA:98908 |
| 13Q12.3 Microdeletion Syndrome |
|
Self-mutilation, Obesity, Failure to thrive, Impaired pain sensation |
ORPHA:412035 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets |
OMIM:255125 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Dementia, Ataxia, Emotional lability, Memory impairment, Mental deterioration, Obesity |
ORPHA:2822 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Skin rash, Pneumonia, Septic arthritis, Sinusitis, Glomerulonephritis, Hepatitis, Fa... |
ORPHA:36234 |
| Congenital Myasthenic Syndrome |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, EEG with polyspike wave complex... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, EEG with polyspike wave complex... |
ORPHA:98914 |
| Pfapa Syndrome |
|
Encephalitis, Arthritis |
ORPHA:42642 |
| Cysticercosis |
|
Iridocyclitis, Spinal cord lesion, Abnormal skeletal muscle morphology, Encephalitis, Calcificati... |
ORPHA:1560 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pustule, Pneumonia, Abnormality of the medulla oblongata, Facial palsy, Abnormal cerebellum morph... |
ORPHA:68 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Smith-Magenis Syndrome |
|
Corticospinal tract hypoplasia, Impaired pain sensation |
ORPHA:819 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity, Inappropriate laughter, Ataxia, Happy demeanor |
ORPHA:411511 |
| Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Distal amyotrophy, Facial palsy, Rimmed vacuol... |
OMIM:164310 |
| Luscan-Lumish Syndrome |
|
Anxiety, Overgrowth, Aggressive behavior, Obesity |
OMIM:616831 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Distal amyotrophy |
OMIM:603041 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Crigler-Najjar Syndrome |
|
Encephalitis |
ORPHA:205 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... |
OMIM:300755 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Progressive neurologic deterioration, Large for gestational age, Increased body weight |
ORPHA:263455 |
| Whipple Disease |
|
Pericarditis, Uveitis, Encephalitis, Myocarditis, Myositis, Arthritis |
ORPHA:3452 |
| Drug Rash With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... |
ORPHA:139402 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Increased intramyocellular lipid droplets, Gliosis, Rhabdomyolysis, Acute pancr... |
ORPHA:26791 |
| Hartnup Disease |
|
Skin rash, EEG abnormality, Encephalitis |
ORPHA:2116 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... |
ORPHA:565612 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Macroglossia, Aspiration pneumonia, Encephalitis, Aplasia/Hypoplasia of ... |
ORPHA:354 |
| Microsporidiosis |
|
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Sinusit... |
ORPHA:2552 |
| American Trypanosomiasis |
|
Skin rash, Aganglionic megacolon, Encephalitis, Myocarditis |
ORPHA:3386 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... |
OMIM:307200 |
| Nipah Virus Disease |
|
Encephalitis |
ORPHA:99825 |
| Aspergillosis |
|
