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
abnormal lens morphology Tbcetm2b(EUCOMM)Hmgu HET Early adult 2.00×10-07
preweaning lethality, complete penetrance Tbcetm2b(EUCOMM)Hmgu HOM   Early adult 3.18×10-05
cataract Tbcetm2b(EUCOMM)Hmgu HET Early adult 2.05×10-07

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
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
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
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, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Bulbar p... OMIM:105500
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Motor axonal neuropathy, Proximal muscle weakness, Hand ... ORPHA:98856
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... OMIM:613954
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Monomelic Amyotrophy
Muscle weakness, Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve co... 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
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Muscle weakness, Hand tremor, Spinal muscular atr... OMIM:253550
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Amyotrophic Lateral Sclerosis 1
Spasticity, Skeletal muscle atrophy, Muscle weakness, Amyotrophic lateral sclerosis, Fasciculatio... OMIM:105400
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Respirat... OMIM:617892
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, P... OMIM:606482
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Spasticity, Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:611895
Cataract 42
Cataract, Developmental cataract OMIM:115900
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Fasciculations, Axonal degeneration... OMIM:614436
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Skeletal muscle atrophy, Amy... OMIM:612577
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Myoclonus, S... OMIM:159950
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Respiratory insufficiency, Knee... OMIM:615490
Amyotrophic Lateral Sclerosis 16, Juvenile
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb spasticity, Low... OMIM:614373
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal lower limb a... OMIM:605285
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 7
Developmental cataract OMIM:115660
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616437
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations OMIM:619141
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness OMIM:614808
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... OMIM:620011
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Lower cranial nerve dysfunction, Limb fas... ORPHA:90117
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cerebral atrophy, Tetraparesis, Abnormal ... OMIM:105550
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Hand tremor, Hand muscle weakness,... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Lower-limb joint contracture, D... 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, Amyotrophic lateral sclerosis, Fasciculations, Respiratory failure, Muscle... OMIM:613435
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Respiratory insufficiency, Type ... OMIM:605355
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Respiratory in... OMIM:612069
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... OMIM:167320
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Decreased number of peripheral myelinated nerve fibers, Axonal degen... OMIM:604484
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Diaphragmati... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... OMIM:618138
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Tongue fasciculations, Skeletal muscle atrophy, Respiratory insufficie... OMIM:616081
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Axonal ... OMIM:618811
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Basal l... OMIM:214400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Distal muscle weak... OMIM:158590
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Cerebral atrophy, Tremor, Proximal muscle weakness, Weakness of facial ... OMIM:618637
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Progress... ORPHA:98902
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak... ORPHA:641
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fasc... OMIM:608030
Nathalie Syndrome
Cataract ORPHA:2663
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Abnormal motor nerve conduction velocity, Tremor, Vocal co... OMIM:158580
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w... ORPHA:98912
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Respiratory insufficiency, Decreased compound muscle action potential ampl... OMIM:301830
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Progressive distal mu... ORPHA:399103
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Tongue fasciculations, Respiratory insufficiency, Spinal... OMIM:253300
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Lower limb muscle weakness, Respiratory insufficiency, Angulated muscle fi... OMIM:620285
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Oculopharyngodistal Myopathy
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Voc... ORPHA:98897
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Ankle weakness, Shoulder girdle muscle weakness, Amyotrophic... ORPHA:600
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Hand muscle atrophy, Proximal muscle weakness, Spastic... OMIM:205100
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Degeneration of anterior horn cells, Skeletal muscle at... ORPHA:2254
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Axonal degener... OMIM:616155
Nemaline Myopathy 8
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Resp... OMIM:615348
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... OMIM:616286
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
X-Linked Retinoschisis
Cataract ORPHA:792
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Vocal cord paralys... OMIM:162500
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Cranial nerve paralysis, Respira... ORPHA:640
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Tongue fasciculations, Respiratory insufficiency,... OMIM:614399
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Respira... OMIM:605253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Tongue fasciculations, Distal amyotrophy, Congenital contracture, Musc... OMIM:607596
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract 47
Cataract, Microcornea OMIM:612018
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Tongue fasciculations, Abnormal anterior horn cell morphology, Skeleta... ORPHA:1145
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Respiratory insufficiency, Proximal muscle weakness, Progressive muscle ... ORPHA:98896
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Frequent falls, Proximal muscle weakness, Peroneal m... OMIM:611588
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... ORPHA:399086
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degenerat... OMIM:208920
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Decreased motor nerve conduction velocity, I... OMIM:620068
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Ankle weakness, Hip flexor... ORPHA:98913
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118210
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Quadrice... OMIM:603689
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Generalized muscl... ORPHA:254875
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory insufficiency, Peripheral axonal neuropathy, Hypertonia, Respir... OMIM:611722
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Generalized muscle weakness, Distal lower limb mus... ORPHA:254361
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Respiratory insufficiency, Facial d... ORPHA:169186
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Tetraparesis, Limb muscle weakness, Hand muscle atrophy, Hemiparesis, Ankl... OMIM:600561
Arts Syndrome
Optic atrophy, Spinal cord posterior columns myelin loss, Progressive muscle weakness, Tetraplegi... OMIM:301835
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spasticity, Peripheral axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:276244
Galactosemia Ii
Cataract OMIM:230200
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degeneration, Peripheral axonal degen... OMIM:162100
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Proximal Myotonic Myopathy
Cataract ORPHA:606
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Desminopathy
Axial muscle weakness, Distal lower limb muscle weakness, Weakness of facial musculature, Progres... ORPHA:98909
Galactosemia Iv
Cataract OMIM:618881
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Cerebellar atrophy, Skeletal muscle atrophy, ... OMIM:606612
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle... OMIM:606071
Myopathy, Myofibrillar, 5
Abnormal peripheral nervous system morphology, Respiratory insufficiency, Myofibrillar myopathy, ... OMIM:609524
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebral cortical atrophy, Respiratory insufficiency, Fatigable... ORPHA:370968
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Peripheral axonal neurop... OMIM:151800
Distal Myotilinopathy
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... ORPHA:98911
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Abnormal pyramidal s... ORPHA:247604
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Myoclonus, Tremor, Abnormal lower motor neuron morpho... ORPHA:2590
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Muscle fiber atrophy, Proximal muscle weakness, Opisthotonus, Park... ORPHA:300605
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Respiratory insufficiency, Neck muscle weakness,... OMIM:609284
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Cerebellar atrophy, Skel... OMIM:248800
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at... OMIM:616867
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Peripheral demyelination, Chorea, Ax... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb mus... OMIM:609260
Dermoids Of Cornea
Corneal opacity OMIM:304730
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, EMG:... ORPHA:171433
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Proximal muscle weakness, Bulbar palsy,... OMIM:615911
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Peripheral hypomyelination, Distal arthrogryposis, Vocal cord... OMIM:616287
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegi... OMIM:611890
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... ORPHA:101097
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Cerebral atrophy, Myoclonus, Rigidity, Respiratory ... OMIM:619057
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Quadriceps muscle weakness, Hand tremor, Hand muscle we... ORPHA:99947
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity, Central nervous system degeneration... ORPHA:868
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory axonal neuropathy, Cerebral atrophy, Limb muscle weakness, Ragged-red muscle fibers, Prox... OMIM:609286
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal upper limb muscle weakness, Decreased amplitude of sensory action ... ORPHA:90103
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Distal amyotrophy, Basal lamina onion bulb formation, Decreased motor nerve c... OMIM:614895
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Respiratory insufficiency, Rigidity, Hypertonia, Respiratory failure OMIM:613869
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, ... OMIM:616505
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Myopathy, Myofibrillar, 6
Muscular dystrophy, Lower limb muscle weakness, Respiratory insufficiency, Myofibrillar myopathy,... OMIM:612954
Nathalie Syndrome
Cataract OMIM:255990
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Episodic flaccid weakness, Respiratory paralysis, Paralysis, Increa... ORPHA:681
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Progressive muscle weakness, Hypoglycosylation of alpha-dystroglycan, A... OMIM:620166
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Ophthalmoparesis, Cerebellar atrophy, Skeletal... ORPHA:98755
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Spasticity, Cerebellar atrophy, Sensory axonal neuropathy, Cerebral atrophy, Respiratory ... OMIM:610127
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Increased variability in muscle fiber diameter, Proximal muscle weaknes... ORPHA:98905
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Neuromyelitis Optica Spectrum Disorder
Myelitis, Peripheral demyelination, Paraplegia, Neuronal loss in central nervous system, Respirat... ORPHA:71211
X-Linked Progressive Cerebellar Ataxia
Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Distal lower limb amyotrophy, Limb... ORPHA:1175
Charcot-Marie-Tooth Disease, Type 4J
Ankle flexion contracture, Decreased motor nerve conduction velocity, Decreased nerve conduction ... OMIM:611228
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Quadriceps muscle weakness,... ORPHA:99948
Infantile Refsum Disease
Optic atrophy, Spasticity, Progressive muscle weakness, Ataxia, Facial palsy ORPHA:772
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Segmental periph... OMIM:607791
Triosephosphate Isomerase Deficiency
Spasticity, Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficiency, Myopathy, Tremo... OMIM:615512
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Tongue fasciculations, Neck muscle weakness, Hand muscle atrophy, Gener... OMIM:211530
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Hyperekplexia 4
Cerebral atrophy, Myoclonus, Distal arthrogryposis, Hypertonia, Camptodactyly, Flexion contractur... OMIM:618011
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
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
Frontotemporal Dementia
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... ORPHA:275872
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Neck muscle weakness, Fatigable weakness, Generalized muscle weakness,... OMIM:616325
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Cranial nerve paralysis, Respiratory insufficiency due to muscle weakn... ORPHA:230800
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Dysequilibrium Syndrome
Cataract ORPHA:1766
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Progressive muscle weakne... OMIM:615919
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Proximal muscle weakness, Quadriceps muscle weakness, Facial diplegia, Mul... ORPHA:70
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va... OMIM:620138
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Abnorma... ORPHA:478029
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Cerebral atrophy, Chorea, Myopathy, Hyperkinetic movements, Trunc... ORPHA:369847
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Muscle weakness, Ragged-red muscle fibers OMIM:616794
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Muscle flaccidity, Lower limb m... ORPHA:2912
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral demyelination, Limb muscle weakness, Axonal degeneration/rege... OMIM:620378
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Gait ataxia, Myop... ORPHA:363400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal sensory nerve conduction velocity, Gait ataxia, Axonal degeneration,... ORPHA:88628
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Chemodectoma, Vocal cord paralysis, Cranial nerve paralysis, Glomus jugular ... OMIM:601650
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pontocerebellar Hypoplasia, Type 4
Spasticity, Congenital contracture, Myoclonus, Hypertonia, Respiratory failure OMIM:225753
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Idiopathic Camptocormia
Myelitis, Cerebral atrophy, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles... ORPHA:1320
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Optic n... OMIM:616811
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
External ophthalmoplegia, Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy,... OMIM:615838
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Progressive proximal muscle weakness OMIM:300076
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Episodic flaccid weakness, Periodic paralysis, Muscle weakness OMIM:170400
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Respiratory insufficiency, Generalized musc... OMIM:615330
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Retinitis Pigmentosa 40
Cataract OMIM:613801
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Myoclonus, Ragged-red muscle fibers, Tremor, Diffuse cerebral atrophy, Decrea... OMIM:607426
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Limb muscle weakness, Progressive external ophthalmoplegia, Progressive muscl... OMIM:610131
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Aniridia 3
Cataract, Aniridia OMIM:617142
Congenital Myopathy 21 With Early Respiratory Failure
Diaphragmatic weakness, Brain atrophy, Respiratory failure, EMG: myopathic abnormalities OMIM:620326
Adult Intestinal Botulism
Cerebral palsy, Cranial nerve paralysis, Respiratory insufficiency due to muscle weakness, Diaphr... ORPHA:178487
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Foodborne Botulism
Cardiorespiratory arrest, Cerebral palsy, Paralysis, Cranial nerve paralysis, Respiratory insuffi... ORPHA:228371
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... ORPHA:171430
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Adrenomyeloneuropathy
Spasticity, Spastic gait, Leg muscle stiffness, Progressive spastic paraparesis, Axonal degenerat... ORPHA:139399
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exag... OMIM:272750
Machado-Joseph Disease Type 1
Degeneration of the striatum, Spasticity, Cerebellar atrophy, Skeletal muscle atrophy, Spinocereb... ORPHA:276238
Machado-Joseph Disease Type 2
Degeneration of the striatum, Spasticity, Cerebellar atrophy, Skeletal muscle atrophy, Spinocereb... ORPHA:276241
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Cerebellar atrophy, Decreased motor nerve conduction velocity, Respiratory insufficie... OMIM:618186
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle weakness, Scapular ... OMIM:600462
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Brain atrophy, Respiratory failure, Atrophy/Degeneration affecting the brainstem OMIM:616277
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... OMIM:607225
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Spasticity, Respiratory insufficiency, Myoclonus, Abnormality of extrapyramidal mo... OMIM:614299
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Progressi... ORPHA:352447
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Myoclonus, Respiratory failure, Hypertonia OMIM:618240
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Progressive external ophth... ORPHA:98757
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Respiratory insufficiency, Ophthalmoplegia, Ataxia, Respiratory failure OMIM:256000
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Neck muscle weakness, Mot... ORPHA:466768
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Periodic paralysis, Fatigable weakness OMIM:614198
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, External ophthalmoplegia, Dysmetria, Ataxia, Respiratory failure OMIM:618233
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Vocal cord paresis, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:601152
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration... OMIM:271225
Cataract 48
Cataract OMIM:618415
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Respirator... OMIM:181405
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Myoclonus, Abnormality of extrapyramidal motor funct... OMIM:605711
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Shoulder g... ORPHA:206436
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficien... OMIM:245400
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Global brain atrophy, Myelopathy, Tetraparesis, Brain atrophy, Abducens pals... OMIM:617186
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Congenital Varicella Syndrome
Cataract ORPHA:291
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor, Generalized muscle weakness OMIM:609153
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Skeletal muscle atrophy... ORPHA:496641
Hyperkalemic Periodic Paralysis
Ophthalmoparesis, Skeletal muscle atrophy, Cerebral palsy, Respiratory insufficiency, Periodic hy... ORPHA:682
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Paralysis, Muscle fiber necrosis, ... ORPHA:449285
Muscular Dystrophy, Duchenne Type
Calf muscle pseudohypertrophy, Muscular dystrophy, Hamstring contractures, Knee flexion contractu... OMIM:310200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Respiratory failure, Choreoathetosis OMIM:312170
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, ... ORPHA:99956
Variegate Porphyria
Paralysis OMIM:176200
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Muscle weakness, Axonal degeneration OMIM:106100
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Axonal degeneration, Babinski ... OMIM:278800
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency OMIM:313420
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Myelopathy, Parkinsonism, ... ORPHA:909
Immunodeficiency 95
Respiratory failure OMIM:619773
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor f... ORPHA:100070
Morm Syndrome
Cataract ORPHA:75858
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Cerebellar atrophy, Fasciculations, Tremor, Limb hypertonia, Exaggerat... OMIM:620327
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Periodic paralysis OMIM:613345
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Progres... ORPHA:368
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis ORPHA:2375
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Cerebellar atrophy, Respiratory failure, Spasticity ORPHA:168486
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Myelopathy, Cranial nerve compression, Abnormality of the vestibul... ORPHA:268882
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Chorea, Ataxia, Respiratory failure, Muscle weakness ORPHA:70472
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Japanese Encephalitis
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Muscle flaccidity, ... ORPHA:79139
Retinitis Pigmentosa 9
Cataract OMIM:180104
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Neurodegeneration, Motor axonal... OMIM:614298
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Lower limb spasticity, Ataxia, Poor head control, ... ORPHA:280210
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insu... OMIM:618291
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Gowers sign, Shoulder girdle muscle weakness, Generalized limb muscle atrophy, N... ORPHA:98908
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Tetraparesis, Abnormality of the aut... ORPHA:79138
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Respiratory insufficiency, Flexion contracture, EMG: myopathic abnorm... ORPHA:365
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Cerebral atrophy, Cerebral palsy, Myoclonus, Opisthotonus, Babin... OMIM:619847
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Peripheral axonal neuro... OMIM:263570
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Muscle weakness OMIM:188580
Cahmr Syndrome
Lamellar cataract OMIM:211770
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Respiratory insufficiency, Progressive distal muscle weakness, Rhabdo... ORPHA:746
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Cold paresis, Neonatal inspiratory stridor, EMG: myopathic abnormal... ORPHA:684
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ... OMIM:619574
Tbck-Related Intellectual Disability Syndrome
Global brain atrophy, Skeletal muscle atrophy, Respiratory insufficiency, Diastasis recti, Progre... ORPHA:488632
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Head titubation, Respiratory failu... ORPHA:3240
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... OMIM:221770
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann... OMIM:601162
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Progressive muscle weakness, Limb-girdle muscle weakness... ORPHA:79240
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Hip contracture, Clonus, Hypertonia, Exaggerated startl... OMIM:617301
3-Methylglutaconic Aciduria Type 7
Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor ... ORPHA:445038
Neutral Lipid Storage Disease With Ichthyosis
Central nervous system degeneration, Shoulder girdle muscle weakness, Myopathy, Increased intramy... ORPHA:98907
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Inhalational Botulism
Cranial nerve paralysis, Paralysis, Muscle weakness ORPHA:254504
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Tongue fasciculations, Distal amyotrophy, Decreased motor nerve conduction velocit... ORPHA:99949
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Glioblastoma
Paralysis, Muscle weakness ORPHA:360
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Pseudohypoaldosteronism Type 2
Periodic paralysis, Muscle weakness ORPHA:757
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Skeletal muscle atrophy, Incoordination, Speech apraxia, Polyneu... ORPHA:297
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:98853
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Episodic flaccid weakness OMIM:170500
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal pheochromocytoma, Vocal cord pa... OMIM:168000
Stickler Syndrome, Type V
Cataract OMIM:614284
Alg1-Cdg
Cerebellar atrophy, Respiratory failure, Cerebral atrophy ORPHA:79327
Leigh Syndrome
Optic atrophy, Spasticity, Involuntary movements, Sensory axonal neuropathy, Cerebellar atrophy, ... ORPHA:506
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Ophthalmoparesis, Weakness of facial musculature, Increased intramyocellul... OMIM:220110
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Spasticity, Poor coordination, Respiratory failure, Cerebral atrophy OMIM:250940
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Spasticity, Cerebellar atrophy, Respiratory insufficiency, Poor head control, Resp... OMIM:618329
Retinitis Pigmentosa 84
Cataract OMIM:618220
Ventilator-Induced Diaphragmatic Dysfunction
Abnormality of the diaphragm, Diaphragmatic weakness, Ventilator dependence with inability to wea... ORPHA:505395
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Decreased number of peripheral myelinated nerve fibers, Progressive musc... OMIM:256810
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congeni... OMIM:619334
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Proximal muscle weakness, Generalized muscle weakness, Left ventricula... ORPHA:308552
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Glom... OMIM:605373
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Metatropic Dysplasia
Respiratory insufficiency, Peripheral axonal neuropathy, Flexion contracture, Arthrogryposis mult... OMIM:156530
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Respiratory insufficiency, Absent muscle fiber merosin, Muscle fiber atrophy,... ORPHA:258
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con... OMIM:620278
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P... ORPHA:43
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Cerebellar atrophy, Skeletal muscle atrophy, Respiratory insuf... OMIM:252010
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Progressive muscle weakness, Skeletal muscle atrophy ORPHA:264580
Kanzaki Disease
Peripheral axonal neuropathy, Distal muscle weakness, Cerebral atrophy, Axonal degeneration OMIM:609242
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology ORPHA:83601
Thyrotoxic Periodic Paralysis
Ophthalmoparesis, Periodic hypokalemic paresis, Lower limb muscle weakness, Episodic flaccid weak... ORPHA:79102
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Limb hypertonia, Clonus, Hypertonia, Poor h... OMIM:259720
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Flexion contracture, Respiratory failure, Camptodactyly of finger ORPHA:1194
Aniridia-Absent Patella Syndrome
Cataract, Aniridia