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Gene: Tbce MGI:1917680

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Gene Summary

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

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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
cataract Tbcetm2b(EUCOMM)Hmgu HET Early adult 1.08×10-06
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

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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

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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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
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... 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, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... OMIM:253400
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... OMIM:105500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of periphe... 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
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Trichomegaly
Cataract OMIM:190330
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Decreased nerve conduction velocity, Dec... ORPHA:90103
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... OMIM:602099
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakne... OMIM:620011
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Respiratory insufficienc... OMIM:617892
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity OMIM:611895
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... OMIM:614436
Cataract 42
Cataract, Developmental cataract OMIM:115900
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Reduced forced vit... OMIM:618811
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... OMIM:614373
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Uppe... OMIM:612577
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of... OMIM:604320
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:605285
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... ORPHA:90117
Muscular Dystrophy, Congenital, 1B
Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm... OMIM:604801
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616437
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations OMIM:619141
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal m... ORPHA:266
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea,... ORPHA:803
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness OMIM:614808
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Myopathy And Diabetes Mellitus
Respiratory distress, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Achilles tendon... ORPHA:2596
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Distal lower limb amyotrophy, Peri... OMIM:302800
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness OMIM:205250
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Lower-l... OMIM:613710
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure, Tongue fasciculations, Fasciculations, Muscle... OMIM:613435
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Respiratory i... OMIM:605355
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w... OMIM:612069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Scapular winging, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Respirator... OMIM:617232
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... OMIM:167320
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... OMIM:604484
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Respiratory insufficiency... OMIM:616081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Tremor, Cereb... OMIM:618637
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... OMIM:158590
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Vocal cord paresis OMIM:158580
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract OMIM:618881
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... OMIM:607706
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... OMIM:608030
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal... ORPHA:98897
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... OMIM:301830
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Congenital laryngea... ORPHA:2254
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Reduced forced vital capacity, Fatty replacement of skel... OMIM:620249
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Spinal Muscular Atrophy, Type I
Poor head control, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proxi... OMIM:253300
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Prog... OMIM:620285
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, ... OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Axonal degeneration, Upper limb muscle weakness, Lower limb muscle weak... OMIM:616155
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... ORPHA:98913
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Axonal loss OMIM:300857
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Ophthalmoparesis, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... OMIM:616286
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal ... ORPHA:1145
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:608634
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal muscle weakness, Respiratory insufficiency, Upp... OMIM:605253
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Respiratory insufficiency, Hand tremor, Degeneration of anterior... OMIM:607596
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Fatty replacemen... ORPHA:52430
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadric... OMIM:603689
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Peripheral axonal neuropathy, Respiratory insufficiency, Respiratory failure, Hype... OMIM:611722
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 47
Microcornea, Cataract OMIM:612018
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... ORPHA:254361
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... ORPHA:98896
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia... ORPHA:254875
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Progressive external ophthalmoplegia, Ataxia,... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... OMIM:620068
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Congenital Myopathy 14
Hip contracture, Apnea, Proximal muscle weakness, Respiratory insufficiency due to muscle weaknes... OMIM:618414
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Arts Syndrome
Ataxia, Progressive muscle weakness, Optic atrophy, Tetraplegia, Spinal cord posterior columns my... OMIM:301835
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Bulbar palsy, Ankle clonus, Hemiparesis, Respiratory failure, Tongue fascicu... OMIM:600561
X-Linked Retinoschisis
Cataract ORPHA:792
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... ORPHA:169186
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... OMIM:162100
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Progressive gait ataxia, ... ORPHA:276244
Proximal Myotonic Myopathy
Cataract ORPHA:606
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle wea... OMIM:606612
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Respiratory insufficiency, Abnormal peripheral nervous system morpholog... OMIM:609524
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency ORPHA:640
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Distal muscle weakness, Spinal muscular atrophy, Proximal... OMIM:611067
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor... ORPHA:247604
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Respiratory insufficiency due... ORPHA:2590
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Progressive muscle weakness, Ragged-red muscle fib... OMIM:157640
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Rigidity, Optic atrophy, Cerebral atrophy, Respiratory failure, My... OMIM:619057
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia, Muscular dystrophy OMIM:613869
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... ORPHA:300605
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... ORPHA:101097
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... OMIM:604168
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Dermoids Of Cornea
Corneal opacity OMIM:304730
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... OMIM:609284
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Peripheral axonal neuropathy, Spinal musc... OMIM:616867
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi... OMIM:615911
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Pa... OMIM:611890
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo... OMIM:616287
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... ORPHA:99947
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... ORPHA:171433
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Skeletal muscle atrophy, Hand muscle atrophy, Vocal cord paralysis, Tongue ... OMIM:211530
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration... ORPHA:868
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, ... OMIM:620166
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Reduced forced ... OMIM:612954
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Rigidity, Cere... OMIM:610127
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Chorea, Optic atrophy, Slurred spee... ORPHA:98755
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... OMIM:614895
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Charcot-Marie-Tooth Disease Type 4A
Distal muscle weakness, Frequent falls, Hand muscle weakness, Decreased nerve conduction velocity... ORPHA:99948
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Optic atro... OMIM:616505
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... ORPHA:98905
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Nathalie Syndrome
Cataract OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Respiratory insufficiency due t... OMIM:615512
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... ORPHA:75840
Hyperekplexia 4
Flexion contracture, Cerebral atrophy, Respiratory failure, Distal arthrogryposis, Hypertonia, My... OMIM:618011
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Babinski sign, Cerebellar vermis atrophy, Dysmetria, Clumsiness, Sp... ORPHA:1175
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex... ORPHA:71277
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Respiratory paralysis, In... ORPHA:681
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Upper limb muscle weakn... OMIM:607791
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle flexion contracture, Dec... OMIM:611228
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Respiratory failure, Neuronal loss in central nervous system, Peripheral demyelinatio... ORPHA:71211
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Optic atrophy, Spasticity ORPHA:772
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Cerebral atrophy, Restrictive ventilatory defect, M... ORPHA:369847
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Progressive muscle wea... OMIM:619518
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness OMIM:619133
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Respiratory insufficienc... OMIM:616325
Dysequilibrium Syndrome
Cataract ORPHA:1766
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Diaphragmatic weakness, Respiratory failure, Nocturnal hypoventilation, Brain atrophy, E... OMIM:620326
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Neurode... OMIM:615919
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myopathy, Periodic paralysis OMIM:613345
Gm2-Gangliosidosis, Ab Variant
Poor head control, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnorma... OMIM:272750
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n... ORPHA:478029
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers, Muscle weakness OMIM:616794
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ophthalmoplegia, Abnormal mitochondria in muscle tissue, Muscle weakness, Abnormal cranial nerve ... OMIM:258470
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, External ophthalmoplegia, Ta... OMIM:615838
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... OMIM:620378
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Apnea, Periodic paralysis, Fatigable weakness OMIM:614198
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... ORPHA:35689
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Gait ataxia, Ab... ORPHA:88628
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Hypertonia, Congenital contracture, Myoclonus, Spasticity OMIM:225753
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... ORPHA:1320
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... OMIM:600462
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Brain atrophy, Atrophy/Degeneration affecting the brainstem, Spasticity OMIM:616277
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Spastic paraplegia OMIM:300076
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Multiple Mitochondrial Dysfunctions Syndrome 3
Generalized muscle weakness, Optic atrophy, Spastic tetraplegia, Respiratory insufficiency, Cereb... OMIM:615330
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Poor head control, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficie... OMIM:614299
Congenital Myopathy 15
Reduced forced vital capacity, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increa... OMIM:620161
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Aspiration pneumonia,... ORPHA:2020
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis OMIM:170400
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Spasticity, Global brai... OMIM:616811
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
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Progressive muscle weakness, Ragged... OMIM:607426
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Bulbar palsy, Abnorm... ORPHA:2912
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, External ophthalmoplegia, Optic atrophy, Dysmetria, Respi... OMIM:618233
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... OMIM:615157
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... 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
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity... ORPHA:397744
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Retinitis Pigmentosa 40
Cataract OMIM:613801
Aniridia 3
Aniridia, Cataract OMIM:617142
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... OMIM:610131
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ... ORPHA:139399
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Pellagra-Like Syndrome
Cataract OMIM:260650
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... ORPHA:171430
Cataract 24
Anterior polar cataract OMIM:601202
Machado-Joseph Disease Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Progressive external o... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Progressive external o... ORPHA:276241
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Flexion co... OMIM:618186
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle... ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Hypertonia, Myoclonus OMIM:618240
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Leigh Syndrome
Ataxia, Ophthalmoplegia, Optic atrophy, Respiratory insufficiency, Respiratory failure, Spasticit... OMIM:256000
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Abnormal pyramidal sign, Vocal cor... ORPHA:98757
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Generalized muscle weakness, Hand tremor, Periodic paralysis OMIM:609153
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
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
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Adult Intestinal Botulism
Cerebral palsy, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysi... ORPHA:178487
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory failure, Abnormality o... OMIM:605711
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Distal muscle w... OMIM:601152
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, P... ORPHA:206436
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Cataract 48
Cataract OMIM:618415
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetos... OMIM:312170
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
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
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Poor head control, Respiratory insufficie... OMIM:245400
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Skeletal muscle atrophy, Tremor,... ORPHA:79139
Snakebite Envenomation
Epistaxis, Paralysis, Rhabdomyolysis, Respiratory failure, Pseudobulbar paralysis, Muscle fiber n... ORPHA:449285
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, ... ORPHA:496641
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a... ORPHA:99956
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Bu... ORPHA:79138
Congenital Varicella Syndrome
Cataract ORPHA:291
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Re... ORPHA:682
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Spasticity ORPHA:168486
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle... OMIM:619574
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness OMIM:106100
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo... OMIM:278800
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Variegate Porphyria
Paralysis OMIM:176200
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Distal amyotrophy, Spastic pa... ORPHA:909
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Bradypnea, Cervical myelopathy, Respiratory fa... OMIM:617186
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles... ORPHA:365
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Respiratory fai... OMIM:620327
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Chorea, Respiratory failure, Spasticity, Muscle weakness ORPHA:70472
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Distal muscle weakn... OMIM:614298
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Poor head control, Ataxia, Abnormal morphology of musculature of pharynx, ... ORPHA:280210
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Dia... ORPHA:505395
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Retinitis Pigmentosa 9
Cataract OMIM:180104
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... ORPHA:268882
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Apnea, Clonus, Flexion contracture, Optic atrophy,... OMIM:617301
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Progressive muscle weakness, Asthma, Respiratory insuff... ORPHA:488632
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Op... OMIM:220110
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Respi... OMIM:619847
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Muscle weakness, Periodic paralysis OMIM:188580
Mitochondrial Trifunctional Protein Deficiency
Progressive distal muscle weakness, Rhabdomyolysis, Generalized muscle weakness, Babinski sign, R... ORPHA:746
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Tetraparesis, Abnormal... OMIM:263570
Cahmr Syndrome
Lamellar cataract OMIM:211770
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Pneumothorax, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreo... ORPHA:445038
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormaliti... ORPHA:684
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Myoclonus, Apraxia, Abnormal upper... OMIM:221770
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... ORPHA:79240
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, General... OMIM:620278
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Distal muscle weakness, Corpus callosum atrophy, Hoffmann ... OMIM:601162
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Pseudohypoaldosteronism Type 2
Muscle weakness, Periodic paralysis ORPHA:757
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy, Decreased number of peripheral myelinated nerve fi... OMIM:256810
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Ophthal... ORPHA:297
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Ataxia, Ophthalmop... ORPHA:506
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Central nervous system degeneration, Myopathy, Shou... ORPHA:98907
Hyperkalemic Periodic Paralysis
Episodic flaccid weakness, Periodic hyperkalemic paralysis OMIM:170500
Glioblastoma
Muscle weakness, Paralysis ORPHA:360
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Hypoventilation, Cerebellar atrophy, Decreased number ... ORPHA:99949
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Proxi... ORPHA:308552
Inhalational Botulism
Dyspnea, Muscle weakness, Paralysis ORPHA:254504
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98853
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... ORPHA:496756
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Alg1-Cdg
Cerebellar atrophy, Respiratory failure, Cerebral atrophy ORPHA:79327
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Ophthalmoparesi... ORPHA:79102
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Poor head control, Optic atrophy, Respiratory insufficiency, Respiratory fail... OMIM:618329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Spastic tetrapleg... ORPHA:3240
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Retinitis Pigmentosa 84
Cataract OMIM:618220
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Abnormal skeletal ... ORPHA:142
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Respiratory failure, Nemaline bodies, Arthrogrypo... OMIM:619334
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Generalized muscle weakness, Respiratory failure, Intersti... ORPHA:330021
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Dyspnea, ... ORPHA:26791
Metatropic Dysplasia
Peripheral axonal neuropathy, Flexion contracture, Respiratory insufficiency, Respiratory failure... OMIM:156530
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Poor head control, Apnea, Ataxia,... OMIM:252010
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Stickler Syndrome, Type V
Cataract OMIM:614284
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Tremor, Dyspnea, Rhabdomyolysis, Optic atrophy, Respiratory insufficien... OMIM:610505
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen ORPHA:264580
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Muscle flaccidity ORPHA:2707
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Poor head control, Facial palsy, Clonus, Optic atrophy, Spastic tetraplegia, C... OMIM:259720
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Respiratory failure, Flexion contracture, Cerebral cortical atrophy ORPHA:1194
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Achromatopsia 3
Cataract OMIM:262300
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Generalized muscle weakness, Respiratory insufficiency, Myopathy, Respiratory fai... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Respiratory failure, Tongue fasciculations, Myoclonus, Cerebral cortical atrophy OMIM:614922
Kanzaki Disease
Distal muscle weakness, Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy OMIM:609242
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Spasticity, Opisthotonus OMIM:610678
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... ORPHA:94080
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure OMIM:619386
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... ORPHA:209905
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Neck flexor weakness, Foot dorsiflexor weakness, Abnormality of the tong... ORPHA:273
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular... ORPHA:444013
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Porphyria, Acute Intermittent
Respiratory paralysis, Muscle weakness, Paralysis OMIM:176000
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Laryngeal Abductor Paralysis
Stridor, Vocal cord paralysis OMIM:150260
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Spasticity, Cerebral... ORPHA:500144
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy, Poor hea... OMIM:616538
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
S-Adenosylhomocysteine Hydrolase Deficiency
Muscle weakness, Respiratory failure, Muscular dystrophy, Poor head control ORPHA:88618
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in... OMIM:613845
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Aplasia/Hypoplasia of the abdomina... ORPHA:646
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Hypoventilation, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cere... OMIM:203700
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Oculomotor apraxia, Ch... OMIM:615636
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory failure, Cataplexy,... OMIM:607625
Sandestig-Stefanova Syndrome
Respiratory failure, Camptodactyly OMIM:618804
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency OMIM:276950
Leprosy
Skeletal muscle atrophy, Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic ... ORPHA:548
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Vocal cord paralysis, Schw... ORPHA:221098
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Gitelman Syndrome
Ataxia, Paralysis, Generalized muscle weakness, Rhabdomyolysis, Muscle weakness OMIM:263800
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:253310
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Increased muscle lipid content, Elbow flexion contracture, ... OMIM:608836
3-Methylglutaconic Aciduria, Type Viii
Apnea, Clonus, Tremor, Cerebral atrophy, Hypopnea, Respiratory failure, Hypertonia, Respiratory a... OMIM:617248
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Periodic hypokale... ORPHA:37553
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Cerebral atrophy OMIM:618252
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Riddle Syndrome
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive ventilatory de... ORPHA:420741
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... ORPHA:254528
Abetalipoproteinemia
Ataxia, Ophthalmoplegia, Babinski sign, Dysmetria, Gait ataxia, Myopathy, Respiratory failure, Di... ORPHA:14
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Pulmonary arterial hypertension, Respiratory failure, Central apnea OMIM:616482
Boutonneuse Fever
Respiratory failure ORPHA:83313
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Poor head control, Apnea, Ataxia, Vocal cord paralysis... OMIM:617799
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, Ri... ORPHA:555874
Rift Valley Fever
Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Muscle weakness ORPHA:319251
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Lower limb spasticity, Flexion contracture, Elbow flexion contracture, Knee flex... OMIM:300868
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Brain atrophy OMIM:618278
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Spontaneous, recurrent epistaxis, Paralysis, Ophthalmoplegia, Spastic paraplegia, Li... ORPHA:2072
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Malignant Atrophic Papulosis
Muscle flaccidity, Pleural effusion, Respiratory failure ORPHA:679
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Muscle weakness, Paralysis ORPHA:18
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Listeriosis
Respiratory distress, Ataxia, Pneumonia, Tremor, Rhabdomyolysis, Hemiparesis, Respiratory failure... ORPHA:533
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure OMIM:614862
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
African Trypanosomiasis
Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myelopath... ORPHA:3385
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Rhabdomyosarcoma, Recurrent pneumonia, Respiratory failure, Muscle weakness ORPHA:647
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Costello Syndrome
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Cerebral ... OMIM:218040
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Respiratory failure ORPHA:158687
Gitelman Syndrome
Respiratory distress, Rhabdomyolysis, Muscle weakness, Paralysis ORPHA:358
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Flexion contracture, Optic atrophy, Upper airway obstruction, Abnorma... ORPHA:581
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Cough, Emphysema OMIM:613658
Myhre Syndrome
Ataxia, Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, R... OMIM:139210
Bloom Syndrome
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure ORPHA:125
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Flexion contracture, Stridor,... OMIM:614653
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger ORPHA:2554
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Carcinoi... ORPHA:805
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Diastasis recti, Flexion contracture, Spinal dysraph... ORPHA:96334
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Optic atrophy, Joint cont... ORPHA:324540
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism OMIM:617660
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Optic atrophy, Spasticity, Respiratory failure, Emphysema, Global brain a... ORPHA:500150
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Congenital diaphragmatic hernia ORPHA:2556
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rigidity, Dyspnea, Respiratory failure, Hypertonia, Spasticity ORPHA:2636
Esophageal Atresia
Respiratory distress, Vocal cord paresis, Episodic respiratory distress, Chronic pulmonary obstru... ORPHA:1199
Fraser Syndrome 2
Respiratory failure OMIM:617666
Schinzel-Giedion Syndrome
Respiratory distress, Aganglionic megacolon, Recurrent pneumonia, Vocal cord paralysis, Macroglos... ORPHA:798
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Unilateral vocal cord paralysis, Cerebral atrophy, Spasticity, Spina bifida o... OMIM:301030
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Tsh-Secreting Pituitary Adenoma
Oculomotor nerve palsy, Internal ophthalmoplegia, Periodic hypokalemic paresis, Tremor ORPHA:91347
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Respiratory insufficiency, Elbow contracture, Spina bifida OMIM:304120
Degcags Syndrome
Diaphragmatic eventration, Pneumonia, Asthma, Vocal cord paralysis, Rhinitis, Tracheomalacia, Pul... OMIM:619488
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Codas Syndrome
Vocal cord paresis OMIM:600373
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Williams-Beuren Syndrome
Poor coordination, Flexion contracture, Vocal cord paralysis, Incoordination OMIM:194050
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tbce

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tbce.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Tubulin-folding cofactor E deficiency promotes vascular dysfunction by increased endoplasmic reticulum stress. European heart journal (February 2022) Tbcetm1a(EUCOMM)Hmgu PMC8830526

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MGI Allele Allele Type Produced
Tbcetm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tbcetm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Tbcetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tbcetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbcetm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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