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Gene: Lrsam1 MGI:2684789

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Gene Summary

Name:
leucine rich repeat and sterile alpha motif containing 1
Synonyms:
N/A

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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
decreased prepulse inhibition Lrsam1em1(IMPC)Bay HOM   Early adult 1.08×10-05
decreased startle reflex Lrsam1em1(IMPC)Bay HOM Early adult 8.58×10-05
eye hemorrhage Lrsam1em1(IMPC)Bay HOM Early adult 6.17×10-05

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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.

Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Human diseases caused by Lrsam1 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 Lrsam1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... OMIM:614436

The table below shows human diseases predicted to be associated to Lrsam1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... OMIM:611228
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re... OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Central nervous system degeneration ORPHA:868
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... OMIM:614436
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Segme... OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, EEG abnormality, Abnormal p... ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy OMIM:608895
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:605285
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Cerebellar atrophy, Abnormal motor nerve conduction velocity... OMIM:618404
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Cerebellar atrophy, De... OMIM:302800
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Decreased number of peripheral myelin... OMIM:618184
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Decr... OMIM:607250
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, C... OMIM:604168
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Cerebral cortical atrophy ORPHA:1188
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal motor evoked potentials ORPHA:99939
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Axonal loss, Motor axonal neuropathy OMIM:620068
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Brain atrophy OMIM:615284
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration OMIM:162100
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo... ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, Degener... OMIM:604320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Ne... OMIM:245200
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Abnormality of peripheral nerve conduction ORPHA:101001
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... OMIM:218000
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:99948
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... OMIM:256600
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Axonal loss, Decreased amplitude of sensory action potentials ORPHA:85446
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy ORPHA:101077
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cerebral atrophy OMIM:619851
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity ORPHA:101081
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem OMIM:619862
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... ORPHA:478029
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Cerebellar atrophy OMIM:159550
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Axonal loss OMIM:118300
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... OMIM:162400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy OMIM:616811
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity OMIM:614932
Dystonia 31
Abnormal posturing OMIM:619565
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:435387
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Atrophy/Degenera... OMIM:616192
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Axo... OMIM:208920
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... OMIM:606070
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Peripheral axonal neuropat... OMIM:256840
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... ORPHA:88628
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Cerebellar atrophy, Optic atrophy OMIM:612674
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization OMIM:193235
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... OMIM:606353
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... ORPHA:485421
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Cerebellar atrophy OMIM:618356
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Optic atrophy, Cerebral atrophy, Sensory... OMIM:608804
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:99950
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity ORPHA:3115
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Corpus callosum atrophy, Cerebral atrophy... ORPHA:565624
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Optic atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal nerve c... ORPHA:98755
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Cerebral cortical atrophy OMIM:238970
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Cerebral cortical atrophy, Abnormality of peripheral nerve conduction ORPHA:48431
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ... ORPHA:139399
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity ORPHA:319514
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Lujo Hemorrhagic Fever
Shock, Resting tremor, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemo... ORPHA:319213
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination OMIM:618279
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Cerebellar atrophy OMIM:603516
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... ORPHA:99827
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi... ORPHA:464329
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Peripheral hypomyelination, Sensory axonal neuropathy, Decre... OMIM:618733
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610532
Optic Atrophy 11
Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facial diplegia, Brain atrophy... OMIM:617302
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:250100
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased sensory nerve ... ORPHA:298
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:270550
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:609033
Eales Disease
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... ORPHA:40923
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Spinocerebellar atro... OMIM:164400
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Axonal degeneration, Optic atrophy, Global brain atrophy OMIM:278800
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Optic atrophy,... ORPHA:1187
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Diffuse cere... ORPHA:206436
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Cerebellar atrophy, Optic atrophy OMIM:610651
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Axonal loss, Abnormal autono... OMIM:614575
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke OMIM:611773
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Facial diplegia, Cerebellar atrophy OMIM:618186
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Cerebellar atrophy, Optic atrophy, Cerebral cortical a... OMIM:615663
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Diffuse axonal swelling, Abnorma... ORPHA:35069
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization ORPHA:891
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy ORPHA:320375
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Abnormal posturing ORPHA:216866
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity OMIM:616652
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Cervical spinal cord atrophy, Sensory a... ORPHA:95
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Pont... OMIM:606002
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Neurodegeneration OMIM:214500
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Idiopathic Aplastic Anemia
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding ORPHA:88
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Retinoblastoma
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage ORPHA:790
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy OMIM:609242
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve... ORPHA:456312
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Motor axonal neuropathy, Decreased amplitude of sens... ORPHA:36386
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Facial palsy OMIM:128100
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Cerebellar atrophy, Corpus callosum atrophy OMIM:261515
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Cerebellar atrophy, Decreased distal s... ORPHA:466768
Stiff-Person Syndrome
Hypertension, Tachycardia, Exaggerated startle response, Opisthotonus OMIM:184850
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Cockayne Syndrome A
Cerebellar atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreas... OMIM:216400
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Atrophy of the spinal cord, Cerebellar atrophy, Brain atrophy ORPHA:167
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Limb dystonia ORPHA:25
Cockayne Syndrome B
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... OMIM:133540
Japanese Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Paucity of anterior horn motor neurons, ... ORPHA:79139
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Atelis Syndrome 2
Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity ORPHA:90658
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye... ORPHA:99949
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Cockayne Syndrome
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased nerve conduction v... ORPHA:191
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, EEG abnormality, Abnormality of the auto... ORPHA:79138
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response ORPHA:309155
Wilson Disease
Decreased nerve conduction velocity OMIM:277900
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:90321
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Familial Drusen
Macular hemorrhage ORPHA:75376
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Rift Valley Fever
Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding ORPHA:319251
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Pulmonic stenosis ORPHA:261552
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Exaggerated startle response, Dystonia ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Dilated cardiomyopathy, Pulmonic stenosis OMIM:253800
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity OMIM:615273
Vici Syndrome
Abnormal posturing OMIM:242840
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Unilateral Polymicrogyria
Abnormal posturing, Giant somatosensory evoked potentials ORPHA:268943
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Brain atrophy, Abnormality of peripheral nerve c... ORPHA:90324
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm... ORPHA:464
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage ORPHA:91500
Thyrotoxic Periodic Paralysis
Abnormality of peripheral nerve conduction ORPHA:79102
Trichinellosis
Retinal hemorrhage ORPHA:863
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Limb dystonia, Corneal neovas... OMIM:175780
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Caudate atrophy, Peripheral axonal neurop... ORPHA:2388
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Abnormality of peripheral nerve conduction, Orthosta... ORPHA:642
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... ORPHA:51608
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Pulmonic stenosis, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Lrsam1

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 Lrsam1.

No publications found that use IMPC mice or data for Lrsam1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lrsam1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrsam1em1(IMPC)Bay Inter-exon deletion Mice
Lrsam1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lrsam1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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