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Gene: Cln6 MGI:2159324

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Gene Summary

Name:
ceroid-lipofuscinosis, neuronal 6
Synonyms:
1810065L06Rik,  D9Bwg1455e

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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
increased heart weight Cln6tm1b(EUCOMM)Hmgu HOM Early adult 5.97×10-05
abnormal retina morphology Cln6tm1b(EUCOMM)Hmgu HOM Early adult 2.13×10-12
decreased prepulse inhibition Cln6tm1b(EUCOMM)Hmgu HOM Early adult 4.76×10-07
preweaning lethality, incomplete penetrance Cln6tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased total body fat amount Cln6tm1b(EUCOMM)Hmgu HOM Early adult 2.97×10-05
impaired glucose tolerance Cln6tm1b(EUCOMM)Hmgu HOM   Early adult 8.47×10-05

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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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

27 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

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1 Images

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Human diseases caused by Cln6 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 Cln6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300

The table below shows human diseases predicted to be associated to Cln6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Segmental... OMIM:606482
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spasticity, Gait ataxia, Ch... ORPHA:225154
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... OMIM:604484
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigment, Inc... OMIM:204200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cerebella... OMIM:302800
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinal Degeneration And Epilepsy
Seizure, Retinal degeneration OMIM:267740
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Hypertrop... OMIM:214400
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Focal impaired awareness seizure, Astrocytosis OMIM:607341
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Seizure,... OMIM:256730
Hyperleucine-Isoleucinemia
Seizure, Retinal degeneration OMIM:238340
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Statu... OMIM:614959
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... OMIM:236792
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... ORPHA:71277
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Myoclonus, Neuronal loss in central nervous system, Cerebr... OMIM:600795
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebellar ataxia... ORPHA:101112
Developmental And Epileptic Encephalopathy 28
Rigidity, Delayed myelination, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, Seizure... OMIM:616211
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Poor coordination, Axonal ... ORPHA:478029
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... OMIM:610127
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Abnormal myelinatio... ORPHA:401820
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... OMIM:208920
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Seizure, Pigmentary retinopathy, Leukodystrophy, Spasticity, Pachygyria OMIM:617613
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Axonal degeneration, Fasciculations, Axonal degeneration/regenera... OMIM:614436
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... OMIM:610951
Autosomal Recessive Spastic Paraplegia Type 57
Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasticity ORPHA:431329
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Babinski sign, Axonal degeneration, Cerebral atro... OMIM:604168
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a... ORPHA:401830
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Paraparesis, Rigidity, Pro... OMIM:612736
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of ext... ORPHA:275864
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
X-Linked Neurodegenerative Syndrome, Bertini Type
Generalized myoclonic seizure, Macular degeneration, Ataxia ORPHA:85334
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Seizure, Macular degenera... OMIM:270200
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Delayed myelination, Optic atrophy, Cerebral atrophy, Hemiparesis, Status epilept... OMIM:615338
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Cerebellar atrophy, Clonus, Delayed myelination, Chorea, Spastic tetrapl... OMIM:613811
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Cere... ORPHA:442835
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Vocal cor... OMIM:607706
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... OMIM:164500
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Paralysis OMIM:613710
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Frequent falls, Axonal degeneration, Diaphragmatic paralysis OMIM:620011
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ... OMIM:143100
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Gray matter heterotopia, Seizure, Dysgyria, Abnormal myelination, Type II lissence... ORPHA:352682
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Pseudopapilledema, Tetraparesis ORPHA:140989
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Axonal degeneration, Gait at... ORPHA:88628
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Delayed myelination, Seizure, Myoclonus, Atypical ... OMIM:617391
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis OMIM:616286
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Abetalipoproteinemia
Ataxia, CNS demyelination, Retinopathy, Peripheral demyelination, Retinal degeneration OMIM:200100
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Seizure, Gliosis, Apraxia, CNS dem... OMIM:221820
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Resting tremor, Cerebellar atrophy, Incoordination, Ataxia, Tremo... OMIM:615157
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia ORPHA:90103
Hsd10 Mitochondrial Disease
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Spasticity, Cerebral cortical atrop... OMIM:300438
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Seizure, Axonal degeneration OMIM:618138
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Seizure, Ataxia, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination ORPHA:401835
Mucolipidosis Iv
Cerebellar atrophy, Cerebral dysmyelination, Babinski sign, Optic atrophy, Spastic tetraplegia, R... OMIM:252650
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... OMIM:617672
Rabies
Seizure, Vocal cord paresis, Cerebral palsy ORPHA:770
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Clonus, Tongue fasciculations OMIM:618811
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia, Retinal degeneration OMIM:257970
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon... ORPHA:284289
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration OMIM:275400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Ataxia, Macular coloboma, Macular... OMIM:619260
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap... OMIM:270700
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis, Facial diplegia, Peripheral hypomyelination OMIM:616287
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Seizure, Retinal degeneration OMIM:617173
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Horner Syndrome, Congenital
Paralysis OMIM:143000
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Peripheral axonal neuropathy, Choroidal neovascularization OMIM:608895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Epileptic spasm, Clonus, Spastic tetraparesis, Delayed myelination, Optic atr... ORPHA:544469
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Axonal degeneration, Optic a... OMIM:278800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Periventricular heterotopia, Optic atroph... OMIM:616171
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor c... ORPHA:79264
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Brain atrophy, Cerebral atrophy, Abnormal myelination ORPHA:85179
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Diaphragmatic paralysis, Axo... OMIM:604320
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Corpus callosum atrophy, Focal-onset ... ORPHA:168491
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... ORPHA:391428
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Nephronophthisis 15
Seizure, Retinal degeneration OMIM:614845
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Clonic seizure, Delayed myelination, Chorea, Op... ORPHA:79097
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto... OMIM:617854
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Seizure, Spastic par... ORPHA:909
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, H... ORPHA:289266
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seizure, Astrocytosis OMIM:611087
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Diabetes And Deafness, Maternally Inherited
Seizure, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen... OMIM:203700
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Optic atrophy, Ataxia ORPHA:99014
Glioblastoma
Glioblastoma multiforme, Seizure, Paralysis ORPHA:360
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Hereditary Methemoglobinemia
Cerebellar atrophy, Delayed myelination, Spastic tetraplegia, Temporal cortical atrophy, Seizure,... ORPHA:621
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Variegate Porphyria
Paralysis OMIM:176200
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal pyramidal sign, Spastic diplegia, Seizure, Macular ... ORPHA:816
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochoki... ORPHA:309854
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning, Gray matter heterotopia, Oculomotor apraxia OMIM:615960
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Astrocytosis, Bradykinesia, Gra... OMIM:601104
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Delayed myelination, Babinski sign, Abnormal pyramidal sign,... ORPHA:397951
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Paraparesis, Rigidity, Babinski sign, Spastic parapleg... OMIM:606693
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Spastic tetraparesis, Infantile spasms, Macular degeneration, Cereb... ORPHA:404451
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Seizure, Retinal degeneration OMIM:249270
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan... ORPHA:276244
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... OMIM:607483
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Developmental And Epileptic Encephalopathy 3
Delayed myelination, Cerebral atrophy, Seizure, Brain atrophy, Generalized myoclonic seizure, Spa... OMIM:609304
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Vocal cord paralysis, Optic atrophy, Hand tremor, Poor fine motor... ORPHA:99947
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Retinal hemo... ORPHA:90324
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Lower limb spasticity, Cerebellar atrophy, Retinal atrophy, Postural tremor, Rigi... ORPHA:412057
Alg6-Cdg
Seizure, Rod-cone dystrophy, Ataxia, Retinal degeneration ORPHA:79320
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Poor gross motor coordination, Poor... ORPHA:99948
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Seizure, Tetraparesis ORPHA:27
Machado-Joseph Disease Type 1
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276241
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Ataxia, Parkinsonism, Paraparesis, Atrophy of the spinal cord, Seiz... ORPHA:2822
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, Neurodegen... OMIM:300100
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Retinal degeneration, Opisthotonus OMIM:616896
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Babinski sign, Abnormal pyramid... OMIM:248500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Focal-onset seizure, Generalized non-motor (absence) seizure, Astrocytosis, Seizure... ORPHA:258
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re... ORPHA:364055
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Peripheral demyelina... OMIM:272200
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Ataxia, Retinal dystrophy, Head titubation, Oculomotor apraxia ORPHA:370022
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Tonic seizure, Seizure, Lissencephaly, Retinal degeneration, Agyria, Type II lissencephaly OMIM:615249
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Parkinsonism, Bull's eye maculopathy, Rigidity, Slurred speech, Optic atro... ORPHA:157850
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, O... OMIM:234200
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tr... ORPHA:48818
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Abnormal cranial nerv... ORPHA:247234
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Nephronophthisis 14
Retinal degeneration OMIM:614844
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Babinski sign, Hypertonia, Neurodegeneration, Retinal degeneration ORPHA:79244
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Vocal cord paralysis, Optic atrophy, Seizure, Increased cup-to-disc ratio, Myocl... ORPHA:500144
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat... OMIM:615994
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Focal-onset seizure, Generalized-onset seizure, Status epilepticus, Paralysis ORPHA:83601
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Macrogyria, Titubation, Gliosis, Abnormal myelination, Cerebral hy... ORPHA:280210
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Japanese Encephalitis
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Facial palsy, Par... ORPHA:79139
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Seizure, Subcortical cerebral at... ORPHA:2396
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Infantile spasms, Focal-onset seizure, Paraparesis, Oromotor apraxia, Peri... ORPHA:98889
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor fine motor coordination, Seizure, Retinal degeneration ORPHA:542306
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypertensive retinopathy, Tremor, Cranial nerve compression, Voca... ORPHA:94080
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Macular coloboma, Infantile spasms, Severe demyelination of the white matter, Atrophy of ... ORPHA:79282
Rift Valley Fever
Retinitis, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Hemiparesis, Retinal vascul... ORPHA:319251
Refsum Disease, Classic
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:266500
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:615558
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... OMIM:605373
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Porphyria, Acute Intermittent
Seizure, Respiratory paralysis, Paralysis OMIM:176000
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Gliosis, Retinal arteriolar constriction, Retinal degenerati... ORPHA:191
Scheie Syndrome
Retinal degeneration OMIM:607016
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Spi... OMIM:162210
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Facial palsy, Paralysis, Tremor, Focal... ORPHA:297
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormality of retinal pigmentation, Abnormal peripheral myelination, Tremor,... ORPHA:466768
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Retinal degeneration OMIM:615630
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Joubert Syndrome 6
Oculomotor apraxia, Retinal degeneration, Ataxia, Chorioretinal coloboma OMIM:610688
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Poor fine motor coordination, Patchy atrophy of the retinal pigment epithelium, Incoordination, R... ORPHA:436245
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Trichothiodystrophy
Generalized-onset seizure, Cerebral dysmyelination, Abnormal pyramidal sign, Gait ataxia, Macular... ORPHA:33364
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Axonal loss, Gliosis, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cerebella... ORPHA:404454
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Farber Disease
Infantile spasms, Paraparesis, Seizure, Macular degeneration, Myoclonus, Brain atrophy, Cherry re... ORPHA:333
Pineoblastoma
Seizure, Papilledema, Retinoblastoma, Paralysis ORPHA:251909
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Vocal cord paresis, Optic atrophy, Axonal degeneration/regeneration OMIM:601152
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Facial palsy, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee... OMIM:211530
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Cone/cone-rod dystrophy, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, ... ORPHA:94147
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Seizure, Vocal cord paralysis ORPHA:397744
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Axial Spondylometaphyseal Dysplasia
Rod-cone dystrophy, Optic atrophy, Peripheral retinal degeneration, Retinal dystrophy ORPHA:168549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Retinal degeneration, Pachygyria, Optic atrophy, Seizure, Hypoplasia of the reti... OMIM:253280
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Seizure, Abnormal glossopharyngeal n... ORPHA:221098
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Optic atrophy, Gait a... ORPHA:99949
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Cerebral cortical atrophy, Retinal degeneration ORPHA:166035
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ... ORPHA:276621
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia ORPHA:98897
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Optic atrophy, Central nervous system degene... ORPHA:581
Inhalational Botulism
Paralysis ORPHA:254504
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Agyria, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Seizure, Reti... OMIM:236670
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Andersen-Tawil Syndrome
Seizure, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy OMIM:609242
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Hurler Syndrome
Abnormal CNS myelination, Neurodegeneration, Retinal degeneration OMIM:607014
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Ataxia, Retinal dystrophy, Hyperautofluorescent macular ... OMIM:209900
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Vocal cord par... OMIM:617799
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Optic atrophy, Vocal cord paralysis, Poor fine motor coordination, Myelin outfoldings ORPHA:99956
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Tremor, Retinal pig... OMIM:216400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Paraparesis, Paraplegia, Hemiparesis, Leukodystrophy ORPHA:79124
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus OMIM:619574
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ... ORPHA:29072
Gitelman Syndrome
Seizure, Ataxia, Paralysis OMIM:263800
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Optic disc drusen, Angioid streaks of the fundu... OMIM:264800
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Arachnoid Cyst
Facial palsy, Paraparesis, Cranial nerve compression, Slurred speech, Hemiparesis, Seizure, Tetra... ORPHA:2356
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Seizure, Abnormal myelination OMIM:617333
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Arnold-Chiari Malformation Type I
Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the twelfth crania... ORPHA:268882
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Bilateral tonic-clonic seizure with generalized onset, Paralysis, Oculomotor apraxia... ORPHA:2072
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Xq21 Microdeletion Syndrome
Ataxia, Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
Bohring-Opitz Syndrome
Retinal atrophy, Delayed myelination, Optic atrophy, Seizure, Lower limb hypertonia ORPHA:97297
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis OMIM:620358
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Monosomy 18Q
Astrocytoma, Abnormal retinal morphology, Poor coordination, Choreoathetosis, Seizure, Abnormal m... ORPHA:1600
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Seiz... ORPHA:580
Say-Barber-Miller Syndrome
Babinski sign, Optic atrophy, Ankle clonus, Macular degeneration, Lower limb hypertonia, Spastic ... ORPHA:3132
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
African Trypanosomiasis
Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Hemipares... ORPHA:3385
Knobloch Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Seizure, Macular degeneration, Vitreoreti... ORPHA:1571
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Igg4-Related Pachymeningitis
Seizure, Abnormal optic nerve morphology, Paraparesis ORPHA:449427
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Nephronophthisis 11
Retinal degeneration OMIM:613550
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Werner Syndrome
Retinal degeneration OMIM:277700
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Seizure, Tetraparesis, Spasticity OMIM:164200
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Vocal cord paresis ORPHA:600
Acute Transverse Myelitis
Paraparesis, Babinski sign, Paraplegia, Abnormality of extrapyramidal motor function, CNS demyeli... ORPHA:139417
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98853
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Gitelman Syndrome
Focal-onset seizure, Paralysis ORPHA:358
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration, Gait ataxia OMIM:618479
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis OMIM:606071
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Tetraparesis ORPHA:2785
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ataxia, Retinal dystrophy, Seizure, Macular degeneration, Rod-cone dystrophy, Attenuation of reti... OMIM:266920
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Optic atrophy, Retinal dystrophy ORPHA:324540
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Unilateral vocal cord paralysis, Cerebral atrophy, Seizure, Spasticity OMIM:301030
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Schinzel-Giedion Syndrome
Epileptic spasm, Ependymoma, Vocal cord paralysis, Seizure, Hypertonia, Spasticity, Cerebral cort... ORPHA:798
Tsh-Secreting Pituitary Adenoma
Tremor, Seizure, Periodic hypokalemic paresis ORPHA:91347
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Codas Syndrome
Seizure, Vocal cord paresis OMIM:600373
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Degcags Syndrome
Vocal cord paralysis, Abnormal myelination OMIM:619488
Esophageal Atresia
Vocal cord paresis, Hypertonia ORPHA:1199
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Orofaciodigital Syndrome Type 14
Abnormal myelination, Retinal coloboma, Periventricular heterotopia ORPHA:434179
Split Cord Malformation
Paraparesis ORPHA:573278
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Poor coordination, Vocal cord paralysis, Incoordination OMIM:194050
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Incoordination, Ataxia, Retinal pigment epithelial at... ORPHA:64

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 Cln6

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 Cln6.

No publications found that use IMPC mice or data for Cln6.

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
Cln6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cln6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cln6tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Cln6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cln6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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