Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Abnormal lower motor neuron morphology, Weakness... |
OMIM:607641 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal muscle weakness, Sensory axonal neuropathy, Shoulder girdle muscle atrophy, Clusters of ... |
ORPHA:98856 |
Spinal Muscular Atrophy, Type Iii |
|
Proximal muscle weakness, Spinal muscular atrophy, Lower limb muscle weakness, Degeneration of an... |
OMIM:253400 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis, Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lat... |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Degeneration of anterior horn cells, Pseudobulbar paralysis, Muscle weakness, Skeleta... |
OMIM:105400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Spasticity, Ankle clonus, Lower limb muscle weakn... |
OMIM:613954 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Babinski sign, Clonus, Abnor... |
OMIM:602433 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... |
ORPHA:65684 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Spinal Muscular Atrophy, Type Ii |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Hand tremor, Muscle weakness, Skele... |
OMIM:253550 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Respiratory insufficiency, Distal upper limb muscle weakness, Gait ataxia, Abnormality of periphe... |
ORPHA:90103 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Abnormal pyramidal sign, Fasciculations, Babinski sign, Abnormal lower motor neuron m... |
OMIM:602099 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Parado... |
OMIM:620011 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Respiratory insufficiency, Spasticity, Hippocampal atrophy, Tetraparesis, Skeletal muscle atrophy... |
OMIM:617892 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Amyotrophic Lateral Sclerosis 9 |
|
Spasticity, Distal amyotrophy, Distal muscle weakness, Amyotrophic lateral sclerosis |
OMIM:611895 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Distal muscle weakness... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Knee flexion contracture, Respiratory ins... |
OMIM:615490 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Amyotrophic Lateral Sclerosis 11 |
|
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Skeletal muscle atrophy, Amy... |
OMIM:612577 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Proximal muscle weakness, Hand muscle atrophy, Reduced forced vital capacity, Weakness of facial ... |
OMIM:618811 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... |
OMIM:604320 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Lower limb spasticity, Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Low... |
OMIM:614373 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal upper limb muscle weakness, Distal lower limb amyotrophy, Decreased motor nerve conduction... |
OMIM:605285 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Proximal muscle weakness, Spinal muscular atrophy, Degenerat... |
OMIM:159950 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Lower limb muscle weakness, Fatiguable weakness of proximal limb muscles, L... |
ORPHA:90117 |
Muscular Dystrophy, Congenital, 1B |
|
Gowers sign, Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hyper... |
OMIM:604801 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Fatty replacement of s... |
ORPHA:266 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Spasticity, Babinski sign, Muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosi... |
OMIM:612069 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Muscle weakness, Limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Amyotrophic Lateral Sclerosis 8 |
|
Abnormal pyramidal sign, Proximal muscle weakness, Postural tremor, Neuronal loss in central nerv... |
OMIM:608627 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Respiratory insufficiency, Fatty replacement of skeletal muscle, Reduced forced vital capacity, R... |
OMIM:617232 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Muscle weakness, Abnormal lower motor neuron morphology, Skeletal musc... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Muscle weakness, Abnormal lower motor neuron morphology, Skeletal musc... |
OMIM:616437 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
Multifocal Motor Neuropathy |
|
Weakness of long finger extensor muscles, Motor conduction block, Progressive distal muscle weakn... |
ORPHA:641 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Wrist drop, Centrally nucle... |
OMIM:616852 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Proximal muscle weakness, Segmental peripheral demyelination, Peripheral axonal degeneration, Dec... |
OMIM:601596 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
OMIM:271150 |
Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal lower limb a... |
OMIM:302800 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s... |
OMIM:105550 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Neck flexor weakn... |
ORPHA:399103 |
Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Generalized muscle weakness, Motor neuron atrophy, Spastici... |
ORPHA:803 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Nemaline Myopathy 5 |
|
Respiratory insufficiency, Z-band streaming, Hip contracture, Shoulder flexion contracture, Type ... |
OMIM:605355 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis, Muscle weakness, Distal muscle weakness, Skeletal muscle... |
OMIM:613710 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Muscle weakness, Amyotrophic lateral sclerosis, Respiratory failure, Fasci... |
OMIM:613435 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Cerebral cortical atrophy, Spinal muscular atrophy, Tongue fasciculati... |
OMIM:616081 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Proximal muscle weakness, Brain atrophy, Generalized amyotrophy, Progressive proximal muscle weak... |
OMIM:167320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Calf muscle hypertrophy, Go... |
OMIM:618138 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Degeneration of... |
OMIM:604484 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Ataxia, Weakness of facial musculature, Dista... |
OMIM:618637 |
Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy |
OMIM:158580 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Distal muscle weakness, Paralysis, Paresis of extensor muscles of the big toe, Distal lower limb ... |
OMIM:158590 |
Distal Anoctaminopathy |
|
Peroneal muscle atrophy, Rhabdomyolysis, Progressive proximal muscle weakness, Progressive muscle... |
ORPHA:399096 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis, Fasc... |
OMIM:608030 |
Oculopharyngodistal Myopathy |
|
Abnormality of orbicularis oris muscle, Recurrent aspiration pneumonia, Progressive distal muscle... |
ORPHA:98897 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Aspiration, Abnormality of the calf musculature, Shoulder girdle muscle weakn... |
ORPHA:600 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Spinal muscular atro... |
OMIM:301830 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture... |
OMIM:607706 |
Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... |
ORPHA:178400 |
Pontocerebellar Hypoplasia Type 1 |
|
Congenital laryngeal stridor, Cerebral cortical atrophy, Spasticity, Optic atrophy, Degeneration ... |
ORPHA:2254 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Spinal muscular atrophy, Tongue fasciculations, P... |
OMIM:253300 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness |
OMIM:615515 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Respiratory insufficiency, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:605253 |
Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Aspir... |
OMIM:606070 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Generalized mu... |
ORPHA:98912 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Decreased size of nerve terminals, Upper limb muscle weakness, Facial palsy, Weakness of long fin... |
ORPHA:98913 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... |
OMIM:614399 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Proximal muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Upper limb muscl... |
OMIM:616155 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... |
OMIM:618414 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Proximal muscle weakness, Babinski sign, Hypertonia, Distal amyotrophy, Spasticity, Spastic diple... |
OMIM:205100 |
Nemaline Myopathy 8 |
|
Flexion contracture, Ophthalmoparesis, Nemaline bodies, Muscle weakness, Respiratory failure, Myo... |
OMIM:615348 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Amyotrophic lateral sclerosis, Axonal loss |
OMIM:300857 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Decreased muscle mass, Respiratory failure, Art... |
OMIM:208081 |
Lethal Congenital Contracture Syndrome 7 |
|
Knee flexion contracture, Distal arthrogryposis, Paralysis, Facial diplegia, Skeletal muscle atro... |
OMIM:616286 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Respiratory insufficiency, Generalized muscle weakness, Hip contracture... |
ORPHA:1145 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Global brain atrophy, Peripheral axonal neuropathy, Hypertonia, Centra... |
OMIM:611722 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Froment sign, Decreased motor nerve conduction velocity, Muscle weakness, Segmental peripheral de... |
OMIM:162500 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Neck flexor weakness, Pro... |
OMIM:603689 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis, Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness |
OMIM:608634 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:52430 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Progressive proximal muscle weakness, Autophagic vacuoles, Progressive di... |
OMIM:609452 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Generalized muscle weakness, Exertional dyspne... |
ORPHA:254361 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Pontocerebellar Hypoplasia, Type 1A |
|
Respiratory insufficiency, Cerebral cortical atrophy, Fasciculations, Spinal muscular atrophy, De... |
OMIM:607596 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Proxima... |
OMIM:300717 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Generalized muscle weakness, Spinal muscular atrophy, Ophthalmoparesis... |
ORPHA:254875 |
Myopathy, Myofibrillar, 5 |
|
Respiratory insufficiency, Muscle fiber splitting, Proximal muscle weakness, Abnormal peripheral ... |
OMIM:609524 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Peripheral axonal degeneration, Oculomotor apraxia, Truncal ataxia, Limb ata... |
OMIM:208920 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Vocal cord paralysis |
ORPHA:640 |
Duchenne Muscular Dystrophy |
|
Respiratory insufficiency, Flexion contracture, Proximal muscle weakness, Calf muscle hypertrophy... |
ORPHA:98896 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Distal upper limb muscle weakness, Oculomotor nerve palsy, Respiratory failure, Distal lower limb... |
OMIM:606071 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Motor axonal neuropathy, Axonal loss, Decreased motor nerve conduction velocity, Lowe... |
OMIM:620068 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Ankle clonus, Hand muscle atrophy, Hemiparesis, Bulbar palsy, Tongue fasciculations, Tetraparesis... |
OMIM:600561 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:118210 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Autosomal Recessive Centronuclear Myopathy |
|
Respiratory insufficiency, Hip contracture, Centrally nucleated skeletal muscle fibers, Generaliz... |
ORPHA:169186 |
Arts Syndrome |
|
Optic atrophy, Ataxia, Progressive muscle weakness, Spinal cord posterior columns myelin loss, Te... |
OMIM:301835 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Brachial plexus neuropathy, Muscle weakness, Skeletal muscle atro... |
OMIM:162100 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Generalized muscle weakness, Respiratory failure, Proximal muscle weakness, ... |
OMIM:606612 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Respiratory insufficiency, Generalized muscle weakness, Flexion contracture, Proximal muscle weak... |
OMIM:609284 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Desminopathy |
|
Fatigable weakness of bulbar muscles, Neck flexor weakness, Fatigable weakness of respiratory mus... |
ORPHA:98909 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Progressive external ophthalmoplegia, Upper motor neuron dys... |
ORPHA:276244 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Proximal muscle weakness, Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower ... |
OMIM:611067 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Cerebral cortical atrophy, Multiple joint... |
ORPHA:370968 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive proximal muscle weakness, Abnormal muscle fiber myotilin... |
ORPHA:98911 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Juvenile Primary Lateral Sclerosis |
|
Spasticity, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Musc... |
ORPHA:247604 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Muscular dystrophy, Rigidity, Apnea, Hypertonia, Respiratory failure |
OMIM:613869 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Progressive external ophthalmoplegia, Progressive muscle weakness, Sensory axonal neuropathy, Bra... |
OMIM:157640 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Flexion contracture, Recurrent aspiration pneumonia, Lower limb muscle weakness, ... |
ORPHA:2590 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... |
OMIM:608323 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Optic atrophy, Rigidity, Myoclonus, Cerebral atrophy, Respiratory failure, ... |
OMIM:619057 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Lethal Congenital Contracture Syndrome 4 |
|
Respiratory insufficiency, Distal arthrogryposis, Flexion contracture, Multiple joint contracture... |
OMIM:614915 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation, Paralysis |
ORPHA:132 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Periph... |
OMIM:604168 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Proximal muscle weakness, Muscle fiber atrophy, Hypertonia, Distal amyotrophy, Lower-limb joint c... |
ORPHA:300605 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Distal upper limb muscle weakness, Chronic axonal neuropathy, Flexion contracture, Vocal cord par... |
ORPHA:101097 |
Marinesco-Sjogren Syndrome |
|
Gait ataxia, Spasticity, Flexion contracture, Cerebellar cortical atrophy, Centrally nucleated sk... |
OMIM:248800 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Spinal ... |
OMIM:616867 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Paucity of anterior horn motor neurons, Facial diplegia, Peripheral axonal neuropathy, Skeletal m... |
OMIM:611890 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
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Cerebral cortical atrophy, Proximal muscle weakness, Parkinsonism, Ataxia, Babinski sign, Amyotro... |
OMIM:615911 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Ankle clonus, Proximal muscle weakness, External ophthalmoplegia, Noct... |
OMIM:211530 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Flexion... |
OMIM:609260 |
Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology, Hand muscle atrophy |
OMIM:183020 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Cataract |
OMIM:617133 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Decreased nerve conduction velocity, Skeletal muscle atrophy, Central ne... |
ORPHA:868 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Spasticity, Respiratory failure, Rigidity, Ataxia, Neuronal loss in ce... |
OMIM:610127 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
Intermediate Nemaline Myopathy |
|
Generalized muscle weakness, Flexion contracture, Ophthalmoplegia, EMG: myopathic abnormalities, ... |
ORPHA:171433 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Proximal muscle wea... |
OMIM:605588 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Respiratory insufficiency, Myofibrillar myopathy, Generalized muscle we... |
OMIM:612954 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Flexion contracture, Paresis of extensor muscles of the big toe, Op... |
ORPHA:99947 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
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Proximal muscle weakness, Parkinsonism, Progressive external ophthalmoplegia, Ragged-red muscle f... |
OMIM:609286 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Frontotemporal cerebral atrophy, Parkinsonism, Diffuse cerebral atrophy, Ab... |
ORPHA:412066 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Abnormal nerve conduction velocity, Respiratory failure, Abnormality of somatosensory evo... |
ORPHA:98755 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Gait ataxia, Onion bulb formation, Vocal ... |
OMIM:614895 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor fine motor coordination, Chronic axonal neuropathy, Motor conduction block, Denervation of t... |
ORPHA:99948 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Flexion contracture, Proximal muscle weakness, Internally nucleated skeletal muscle fibers, Facia... |
ORPHA:98905 |
Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Progressive external ophthalmoplegia, Restrictive ventila... |
ORPHA:663 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Flexion contracture, Respiratory failure, Optic atrophy, Myoclonus, Ataxia, Babinski... |
OMIM:616505 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Spasticity, Respiratory distress, Progressive muscle weakness, Muscle ... |
OMIM:615512 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency, Generalized muscle weakness, Ophthalmoplegia, Gowers sign, Fatigable w... |
OMIM:616325 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Generalized muscle wea... |
ORPHA:238329 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... |
ORPHA:75840 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Flexion contracture, Myoclonus, Camptodactyly, Cerebral atrophy, Hypertoni... |
OMIM:618011 |
Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Spasticity of facial muscles, Spastic gait, Appendicular spasticity, S... |
OMIM:606353 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Distal arthrogryposis, Onion bulb formation, Axonal loss, Decreased motor nerve conduction veloci... |
OMIM:611228 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Distal lower limb amyotrophy, Axonal loss, Dysdiadochokinesis, Clumsin... |
ORPHA:1175 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Truncal ataxia, Restrictive ventilatory defect, Myopathy, Cerebra... |
ORPHA:369847 |
Proximal Spinal Muscular Atrophy |
|
Flexion contracture, Proximal muscle weakness, Multiple joint contractures, Recurrent aspiration ... |
ORPHA:70 |
Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Neuronal loss in central nervous system, Paraplegia, Respiratory failure, Peripheral de... |
ORPHA:71211 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Flexion contracture, Ataxia, Progressive muscle weakness, Muscle weakness, Cerebellar atrophy, Ne... |
OMIM:615919 |
Hypokalemic Periodic Paralysis |
|
Late-onset proximal muscle weakness, Fatigable weakness of respiratory muscles, Respiratory paral... |
ORPHA:681 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regene... |
OMIM:607791 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... |
ORPHA:71277 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Hip contracture, Lower... |
OMIM:619042 |
Infantile Refsum Disease |
|
Spasticity, Optic atrophy, Ataxia, Progressive muscle weakness, Facial palsy |
ORPHA:772 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Reduced forced vital capac... |
OMIM:619518 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Fasciculations, Proximal muscle weakness, Generalized amyotrophy, Parkinson... |
ORPHA:275872 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Bulbar palsy, Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619133 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Respiratory insufficiency, Generalized muscle weakness, Neck flexor weakness, Proximal muscle wea... |
OMIM:161800 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Respiratory insufficiency, Ophthalmoplegia, Fatigable weakness, Neck muscle weakness, Muscle weak... |
OMIM:616322 |
Spinocerebellar Ataxia Type 26 |
|
Progressive gait ataxia, Truncal ataxia, Paralysis, Limb ataxia, Babinski sign, Cerebellar atroph... |
ORPHA:101112 |
Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency, Generalized muscle weakness, Decreased muscle mass, Ophthalmoparesis, ... |
OMIM:603034 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... |
ORPHA:95434 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Hip contracture, Gowers sign, Elbow flexion contracture, Myopathy, Ske... |
ORPHA:97244 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spasticity, Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Ataxia, Peripheral axona... |
OMIM:617207 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism |
OMIM:600274 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
Horner Syndrome, Congenital |
|
Paralysis, Congenital Horner syndrome |
OMIM:143000 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babinski sign |
OMIM:606777 |
Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Distal upper limb muscle weakness, Proximal muscl... |
OMIM:620138 |
Congenital Myopathy 8 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Proximal muscle weakne... |
OMIM:618654 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Spastic dysarthria, Babinski sign, Spastic tetraparesis, Abnormal upper motor neuro... |
OMIM:611637 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Periodic paralysis, Myopathy |
OMIM:613345 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Periodic paralysis, Fatigable weakness, External ophthalmoplegia |
OMIM:614198 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Aspiration, Paralysis, Spastic tet... |
OMIM:272750 |
Cataract 17, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea |
OMIM:611544 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Muscle weakness, Ragged-red muscle fibers |
OMIM:616794 |
Riboflavin Transporter Deficiency |
|
Respiratory insufficiency, Cerebral cortical atrophy, Abnormal autonomic nervous system physiolog... |
ORPHA:97229 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Myoclonic spasms, Abnormal autonomic nervous system physiology, Poor coordi... |
ORPHA:478029 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Global brain atrophy, Spasticity, Respiratory failure, External ophthalmoplegia, Ataxia, Babinski... |
OMIM:615838 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Abnormal mitochondria in muscle tissue, Abnormal cranial nerve morphology, Muscle weakness, Ophth... |
OMIM:258470 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Muscle weakness, Dyspnea, Respiratory insuffi... |
ORPHA:230800 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Abnormal sensory nerve conduction velocity, Abnormal spinal cord morphology, Abnorma... |
ORPHA:88628 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:397744 |
Primary Lateral Sclerosis |
|
Progressive spastic paraparesis, Spasticity, Motor axonal neuropathy, Spastic gait, Spastic dysar... |
ORPHA:35689 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Myoclonus, Poor motor coordination, Ataxia, Neu... |
ORPHA:363400 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
External ophthalmoplegia, Optic atrophy, Ataxia, Apnea, Dysmetria, Central hypoventilation, Respi... |
OMIM:618233 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Myoclonus, Hypertonia, Respiratory failure, Congenital contracture |
OMIM:225753 |
Acute Peripheral Arterial Occlusion |
|
Paralysis, Limb muscle weakness |
ORPHA:90064 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Spastic paraplegia |
OMIM:300076 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Gowers sign, Generalized limb muscle atrophy, Progressive muscle weakness, Muscle weakness, Restr... |
OMIM:600462 |
Idiopathic Camptocormia |
|
Myelitis, Fatty replacement of skeletal muscle, Parkinsonism, Proximal spinal muscular atrophy, S... |
ORPHA:1320 |
Poliomyelitis |
|
Myelitis, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Fatigable weakness of ... |
ORPHA:2912 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Generalized muscle weakness, Optic atrophy, Spastic tetraplegia, Cereb... |
OMIM:615330 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Brain atrophy, Apnea, Respiratory failure, Atrophy/Degeneration affecting the brainstem |
OMIM:616277 |
Myopathy, Tubular Aggregate, 1 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Flexion contracture, P... |
OMIM:160565 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor functio... |
OMIM:614299 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Myoclonus, Diffuse cerebral atrophy, Right he... |
OMIM:607426 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Elbow flexion contracture, Hypoplasia of the musculature, Progressive muscle... |
ORPHA:2020 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Muscle weakness, Periodic paralysis, Myopathy |
OMIM:170400 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Global brain atrophy, Spasticity, Optic atrophy, Optic neuropathy, Cerebellar atrophy, Axonal deg... |
OMIM:616811 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Respiratory insufficiency, Generalized amyotrophy, Optic atrophy, Clumsiness, Tongue fasciculatio... |
OMIM:614707 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Degeneration of anterior horn... |
OMIM:271225 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Progressive muscle weakness, Cerebellar atrophy, Limb muscl... |
OMIM:610131 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral cortical atrophy, Peripheral axonal degeneration, Babinski sign, Central apnea, Bradykin... |
OMIM:615157 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Adrenomyeloneuropathy |
|
Progressive spastic paraparesis, Spasticity, Abnormality of central somatosensory evoked potentia... |
ORPHA:139399 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Proximal muscle weakne... |
OMIM:300696 |
Cataract 2, Multiple Types |
|
Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c... |
OMIM:604307 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Multiminicore Myopathy |
|
Respiratory insufficiency, External ophthalmoplegia, Abnormal muscle fiber morphology, Congenital... |
ORPHA:598 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Ophthalmoplegia, Axial muscle weakness, Type 1 muscle fiber predominance, Fa... |
ORPHA:171430 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Respiratory insufficiency, Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal ... |
OMIM:181405 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Vocal cord paralysis, Bronchiectasis |
ORPHA:2375 |
Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Leigh Syndrome |
|
Respiratory insufficiency, Spasticity, Ophthalmoplegia, Optic atrophy, Ataxia, Abnormal pattern o... |
OMIM:256000 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Generalized amyotrophy, Progressive external ophthalmoplegia, Weakness of fa... |
ORPHA:352447 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Spastic tetraplegia, Achilles tendon contracture, Babinski sign, Spastic paraplegia, Muscle weakn... |
OMIM:607225 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Respiratory insufficiency, Cerebral cortical atrophy, Abnormal pyramidal sign, Lower limb muscle ... |
OMIM:616479 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Myoclonus, Optic disc pallor, Hypertonia |
OMIM:618240 |
Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Respiratory insufficiency, Ophthalmoplegia, Weakness of facial musculature, Muscle weakness, Fati... |
OMIM:616324 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Knee flexion contracture, Respiratory insufficiency, Ophthalmoplegia, Apnea, Facial palsy |
OMIM:617239 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Abnormal pyramidal sign, Brain atrophy, Optic atrophy |
OMIM:618228 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Respiratory failure, Hypoventilation, Calf muscle ... |
OMIM:310200 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Progressive gait ataxia, Clums... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Progressive gait ataxia, Clums... |
ORPHA:276241 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Upper motor neuron dysfunction, Babinski s... |
ORPHA:466768 |
Cataract 40 |
|
Sutural cataract, Nuclear cataract |
OMIM:302200 |
Congenital Myopathy 4A, Autosomal Dominant |
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Respiratory insufficiency, Generalized muscle weakness, Proximal muscle weakness, Centrally nucle... |
OMIM:255310 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Generalized muscle weakness, Hand tremor |
OMIM:609153 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
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Respiratory insufficiency, Cerebellar vermis atrophy, Ophthalmoplegia, Axonal loss, Tongue fascic... |
OMIM:618170 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
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Rhabdomyolysis, Exertional dyspnea, Progressive proximal muscle weakness, Glycogen accumulation i... |
ORPHA:368 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Generalized muscle wea... |
OMIM:255320 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Spinocerebellar Ataxia Type 3 |
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Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, Progressive ex... |
ORPHA:98757 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormality of extrapyramidal motor f... |
OMIM:605711 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Proximal muscle weakness, Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velo... |
OMIM:601152 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Paragangliomas 2 |
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Glomus jugular tumor, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma, Vocal c... |
OMIM:601650 |
Adult Intestinal Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Muscle weakness, Dyspnea, Respiratory insufficiency due ... |
ORPHA:178487 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Proximal muscle weakne... |
OMIM:612999 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Spasticity, Respiratory failure, Central sleep apnea, Apnea, Cerebellar atrophy, Neonatal respira... |
ORPHA:168486 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Pontocerebellar Hypoplasia, Type 1B |
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Respiratory insufficiency, Spasticity, Flexion contracture, Oculomotor apraxia, Tongue fasciculat... |
OMIM:614678 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Infantile Krabbe Disease |
|
Spasticity, Ankle clonus, Opisthotonus, Optic atrophy, Spastic diplegia, Myoclonus, Diffuse cereb... |
ORPHA:206436 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Apneic episodes precipitated by illness, fat... |
OMIM:312170 |
Primary Angiitis Of The Central Nervous System |
|
Pseudopapilledema, Parkinsonism, Hemiparesis, Paraparesis, Paralysis, Ataxia, Tetraparesis |
ORPHA:140989 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Respiratory failure, Skeletal muscle atrophy, Cerebral atrophy, Poor h... |
OMIM:245400 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Bronchopulmonary Dysplasia |
|
Hyperoxemia, Tracheobronchomalacia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
Familial Cervical Artery Dissection |
|
Paralysis, Facial palsy |
ORPHA:36382 |
Foodborne Botulism |
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Cerebral palsy, Paralysis, Cardiorespiratory arrest, Muscle weakness, Diaphragmatic paralysis, Re... |
ORPHA:228371 |
Bickerstaff Brainstem Encephalitis |
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Abnormal pyramidal sign, Ophthalmoplegia, Decreased motor nerve conduction velocity, Abnormality ... |
ORPHA:79138 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Spasticity, Cerebral cortical atrophy, Respiratory failure, Motor axonal neuropathy, Optic atroph... |
ORPHA:496641 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
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Respiratory insufficiency, Spasticity, Motor axonal neuropathy, Optic atrophy, Parkinsonism, Rigi... |
ORPHA:289560 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Japanese Encephalitis |
|
Respiratory paralysis, Irregular respiration, Elbow flexion contracture, Choreoathetosis, Muscle ... |
ORPHA:79139 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Respiratory insufficiency, Distal upper limb muscle weakness, Poor fine motor coordination, Optic... |
ORPHA:99956 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Spasticity, Central sleep apnea, Ataxia, Muscle weakness, Respiratory failure, Obstructiv... |
ORPHA:70472 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spasticity, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper moto... |
OMIM:215470 |
Hyperkalemic Periodic Paralysis |
|
Respiratory insufficiency, Periodic hyperkalemic paralysis, Flexion contracture, Ophthalmoparesis... |
ORPHA:682 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Snakebite Envenomation |
|
Rhabdomyolysis, Respiratory paralysis, Pseudobulbar paralysis, Paralysis, Muscle fiber necrosis, ... |
ORPHA:449285 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
First dorsal interossei muscle weakness, Centrally nucleated skeletal muscle fibers, Triceps weak... |
OMIM:619574 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Respiratory insufficiency, Respiratory failure, Hip contracture |
OMIM:313420 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Respiratory insufficiency, Flexion contracture, Gowers sign, Proximal lower limb amyotrophy, Musc... |
OMIM:310440 |
Angioedema, Hereditary, 1 |
|
Muscle weakness, Axonal degeneration, Peripheral axonal neuropathy |
OMIM:106100 |
De Sanctis-Cacchione Syndrome |
|
Global brain atrophy, Spasticity, Optic atrophy, Choreoathetosis, Ataxia, Babinski sign, Scissor ... |
OMIM:278800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Flexion contracture, Gowers sign, Progressive proximal muscle weakness... |
ORPHA:365 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Limb muscle weakness, Paralysis, Skeletal muscle atrophy |
OMIM:612300 |
Arnold-Chiari Malformation Type I |
|
Gait ataxia, Cranial nerve compression, Abnormality of the eleventh cranial nerve, Central sleep ... |
ORPHA:268882 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Proximal muscle weakness, Decreased size of nerve terminals, Type 2 mu... |
ORPHA:98915 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis |
OMIM:619132 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebral cortical atrophy, Flexion contracture, Multiple joint contractures, Spina bifida occulta... |
OMIM:618291 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Global brain atrophy, Brain atrophy, Bradypnea, Rigidity, Torticollis, Ataxia, Tremor, Tetrapares... |
OMIM:617186 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Optic atrophy, Abnormal auditory evoked potentials, Babinski sign, Distal a... |
ORPHA:909 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Cataract 16, Multiple Types |
|
Lenticonus, Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Ane Syndrome |
|
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy |
ORPHA:157954 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Reduced maximal inspiratory pressure, Ventilator dependence with inability to wean, Reduced force... |
ORPHA:505395 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Motor axonal neuropathy, Optic atrophy, Parkinsonism, Abnorm... |
OMIM:614298 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Titubation, Ataxia, Poor head control, Lower limb spasticity, Respiratory failure, Abnormal morph... |
ORPHA:280210 |
Rabies |
|
Vocal cord paresis, Cerebral palsy |
ORPHA:770 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Tbck-Related Intellectual Disability Syndrome |
|
Respiratory insufficiency, Global brain atrophy, Diastasis recti, Asthma, Macroglossia, Progressi... |
ORPHA:488632 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Optic atrophy, Ophthalmoparesis, Truncal ataxia, Respiratory distress, Increa... |
OMIM:220110 |
Asbestos Intoxication |
|
Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity, Oxygen d... |
ORPHA:2302 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... |
ORPHA:723 |
Dk1-Cdg |
|
Progressive muscle weakness |
ORPHA:91131 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ... |
OMIM:617301 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Spastic tetraplegia, Cerebral palsy, Myoclonus, Babinski sign, Hypertonia, Cerebral a... |
OMIM:619847 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Respiratory insufficiency, Proximal amyotrophy, Generalized amyotrophy, Progressive external opht... |
OMIM:615084 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Rhabdomyolysis, Progressive muscle weakness, Muscle weakness, Skelet... |
ORPHA:370 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Muscle weakness, Periodic paralysis, Rhabdomyolysis |
OMIM:188580 |
Leigh Syndrome With Cardiomyopathy |
|
Chorea, Global brain atrophy, Spasticity, Optic atrophy, Ophthalmoplegia, Involuntary movements, ... |
ORPHA:70474 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Generalized muscle weakness, Skeletal myopathy, Rhabdomyolysis, Lower ... |
ORPHA:746 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
3-Methylglutaconic Aciduria Type 7 |
|
Spasticity, Respiratory failure, Pneumothorax, Abnormal pyramidal sign, Abnormality of extrapyram... |
ORPHA:445038 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Polyglucosan Body Neuropathy, Adult Form |
|
Spastic paraplegia, Tetraparesis, Peripheral axonal neuropathy, Orthostatic hypotension, Abnormal... |
OMIM:263570 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory failure, Cough, Respiratory distress, Tachypnea |
OMIM:263000 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Flexion contracture, Hypoventilation,... |
ORPHA:258 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Neonatal inspiratory stridor, EMG: myopathic abnormalities, Cold pares... |
ORPHA:684 |
Ciliary Dyskinesia, Primary, 5 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:608647 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness, Progressive muscle we... |
ORPHA:79240 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Axonal loss, Apraxia, Myoclonus, Babinski sign, Cerebral atrophy, Caudate atrophy, Ab... |
OMIM:221770 |
Avian Influenza |
|
Myelitis, Pneumothorax, Rhabdomyolysis, Productive cough, Hypoxemia, Respiratory distress, Pleura... |
ORPHA:454836 |
Typical Nemaline Myopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Limb-girdle muscle wea... |
ORPHA:171436 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon |
ORPHA:1473 |
Neutral Lipid Storage Myopathy |
|
Fatty replacement of skeletal muscle, Fasciculations, Gowers sign, Shoulder girdle muscle weaknes... |
ORPHA:98908 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait ataxia, Hoffmann sign, Generalized amyotrophy, Spastic gait, Resting tremor, Spastic paraple... |
OMIM:601162 |
Pseudohypoaldosteronism Type 2 |
|
Muscle weakness, Periodic paralysis |
ORPHA:757 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Leigh Syndrome |
|
Multiple joint contractures, Optic atrophy, Choreoathetosis, Upper motor neuron dysfunction, Sens... |
ORPHA:506 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Respiratory distress, Ataxia, Progressive... |
OMIM:256810 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Increased intramyocellular lipid droplets, Ataxia, EMG: myopathic abnormalities, Myopathy, Centra... |
ORPHA:98907 |
Tick-Borne Encephalitis |
|
Myelitis, Abnormal glossopharyngeal nerve morphology, Fatigable weakness of respiratory muscles, ... |
ORPHA:297 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Generalized muscle weakness, Proximal muscle weakness, Left ventricula... |
ORPHA:308552 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Thyrotoxic Periodic Paralysis |
|
Abnormality of peripheral nerve conduction, Late-onset proximal muscle weakness, Rhabdomyolysis, ... |
ORPHA:79102 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Respiratory insufficiency, Proximal muscle weakness, Atrophy/Degeneration involving the spinal co... |
OMIM:607459 |
Inhalational Botulism |
|
Muscle weakness, Paralysis, Dyspnea |
ORPHA:254504 |
Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Periodic hyperkalemic paralysis |
OMIM:170500 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... |
ORPHA:98863 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Progressive spastic paraparesis, Spastic ataxia, Spinal muscular atrophy, Optic atrophy, Spastic ... |
ORPHA:496756 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... |
ORPHA:36238 |