banner
Genes Phenotypes Help, News, Blog

Gene: Tbce MGI:1917680

Log in to follow

Gene Summary

Name:
tubulin-specific chaperone E
Synonyms:
2610206D02Rik,  C530005D02Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Tbcetm2b(EUCOMM)Hmgu HOM   Early adult 3.18×10-05
abnormal lens morphology Tbcetm2b(EUCOMM)Hmgu HET Early adult 4.93×10-07
cataract Tbcetm2b(EUCOMM)Hmgu HET Early adult 1.08×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

41 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Tbce mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tbce by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Ataxia, Peripheral axona... OMIM:617207
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Progressive spastic paraparesis, Spastic ataxia, Spinal muscular atrophy, Optic atrophy, Spastic ... ORPHA:496756
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
OMIM:241410
Kenny-Caffey Syndrome, Type 1
OMIM:244460
Autosomal Recessive Kenny-Caffey Syndrome
ORPHA:93324

The table below shows human diseases predicted to be associated to Tbce by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Spinal ... OMIM:616867
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Facial diplegia, Peripheral axonal neuropathy, Skeletal m... OMIM:611890
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
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
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
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
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
Respiratory insufficiency, Cerebellar vermis atrophy, Ophthalmoplegia, Axonal loss, Tongue fascic... OMIM:618170
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
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
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
Proximal muscle weakness, Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velo... OMIM:601152
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Paragangliomas 2
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
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
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
Cerebral palsy, Paralysis, Cardiorespiratory arrest, Muscle weakness, Diaphragmatic paralysis, Re... ORPHA:228371
Bickerstaff Brainstem Encephalitis
Abnormal pyramidal sign, Ophthalmoplegia, Decreased motor nerve conduction velocity, Abnormality ... ORPHA:79138
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Cerebral cortical atrophy, Respiratory failure, Motor axonal neuropathy, Optic atroph... ORPHA:496641
Mitochondrial Membrane Protein-Associated Neurodegeneration
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