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Gene: Atp1b2 MGI:88109

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATPase, Na+/K+ transporting, beta 2 polypeptide
Synonyms:
Amog,  Atpb-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Atp1b2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atp1b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Spastic Paraplegia 88, Autosomal Dominant
Lower limb spasticity, Agenesis of cerebellar vermis, Babinski sign, Distal sensory impairment, A... OMIM:620106
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... OMIM:164500
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Ataxia, Elong... ORPHA:370022
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum, Ataxia ORPHA:85334
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal sensory impairment OMIM:619764
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluores... OMIM:204200
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Babinski sign, S... OMIM:604360
Cerebellar Ataxia, Cayman Type
Abnormal retinal morphology, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia... ORPHA:94122
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal py... ORPHA:216873
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular ... OMIM:256730
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,... OMIM:610688
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Pigmentary retinopathy, Long eyela... ORPHA:3363
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia, Retinal degeneration OMIM:257970
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Abnormal optic... ORPHA:33445
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Agitation... OMIM:300438
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Dysphagia, Frequent falls OMIM:615945
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, M... ORPHA:284289
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Hand tremor, Gait ataxia, Dysphagia, Atrophy/Degeneration affecting the brain... OMIM:617862
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... OMIM:615960
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus ca... OMIM:615771
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... ORPHA:98755
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Optic ... ORPHA:442835
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Optic atrophy, Spastic tetraplegia... OMIM:252650
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Optic atrophy, Abnormal brainstem morphology, Hypertonia, Long eyelashes, ... ORPHA:411493
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Long eyebrows, Pigmentary retinopathy, Lon... OMIM:275400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus, Optic atrophy, A... OMIM:619470
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... OMIM:610127
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Gómez-López-Hernández Syndrome
Telecanthus, Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum m... ORPHA:1532
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration, Ptosis OMIM:311000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... ORPHA:99947
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Ataxia, Clonus, Abnormal cerebellum morphology, Babinski sign, Spastic par... OMIM:270700
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spasticity, Cerebral cortical ... OMIM:300983
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Ataxia, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Tetraparesis,... ORPHA:263410
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Hy... OMIM:607596
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Abnormal eyelid morphology, Tremor, Babinski sig... ORPHA:251282
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Epicanthus, Cerebellar vermis hypoplasia, Retinal dystrophy, At... OMIM:608629
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Optic atrophy, Gait ataxia, Sensory ataxia, ... OMIM:620221
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Drusen, Decreased nerve conduction velocity, Distal sensory impairm... OMIM:608895
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atrophy/Deg... ORPHA:99852
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Cerebral atrophy, C... ORPHA:79264
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... ORPHA:98
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Cerebellar... OMIM:619422
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Frontotemporal cerebral atro... ORPHA:391417
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Joubert Syndrome 28
Optic disc pallor, Ataxia, Highly arched eyebrow, Pigmentary retinopathy, Oculomotor apraxia, Mol... OMIM:617121
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... OMIM:616053
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:612319
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Retinal atrophy, Postural tremor, Hypo... ORPHA:412057
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Cerebral atrophy, Dysphagia, Athetos... OMIM:617493
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Optic ... ORPHA:391428
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal audito... OMIM:619260
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Hypoplastic optic chiasm, Dysme... OMIM:210000
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Nephronophthisis 15
Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614845
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Oral-pharyngeal dysphagia, Paralysis, Cerebral atrophy, Facial diplegia OMIM:616286
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Dysmetria, Atrophy/Degeneration affecting th... OMIM:617954
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Retinal detachment, Fusion of the cerebellar hemispheres, Optic nerve h... ORPHA:370959
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U... OMIM:616108
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, N... OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Developmental And Epileptic Encephalopathy 28
Epicanthus, Rigidity, Optic atrophy, Cerebral atrophy, Spasticity, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary mov... ORPHA:48818
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Dystonia OMIM:300857
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Bilateral ptosis, Optic ... ORPHA:330050
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Distal sensory impairment, Ptosis OMIM:605285
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Facial palsy, Abnormal retinal morphology, Action tremor, Optic atrop... ORPHA:254886
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Hypoplasia of the pons, Partial agenesis ... OMIM:616171
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Ptosis OMIM:520000
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Hypoplasia of the brainstem, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Abnormal cranial nerv... ORPHA:247234
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Abnormal brainstem morphology, Ab... ORPHA:79279
Meckel Syndrome 13
Ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI OMIM:617562
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... OMIM:609260
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Bilateral ptosis, Abnormal brainste... ORPHA:467166
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria,... OMIM:614831
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Abnormality of extrapyramidal motor function, Dysphagi... OMIM:302500
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Retinal degen... ORPHA:157850
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apraxia... OMIM:617810
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Neon... OMIM:616287
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... ORPHA:363710
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Ataxia, Limb tremor, Brain atrophy, Spastic parapares... OMIM:614877
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti... OMIM:234200
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Dysphagia, Clums... OMIM:271245
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Retinal degeneration, Opisthotonus OMIM:616896
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar hypoplasia, Trun... OMIM:615768
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... OMIM:620158
Cach Syndrome
Cerebellar atrophy, T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Optic ... ORPHA:135
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Trem... ORPHA:289494
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Optic atrophy, Tetraplegia, Ce... OMIM:616034
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Intention tr... OMIM:614307
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Abnormal cranial nerve morp... ORPHA:97229
Lissencephaly 4
Babinski sign, Colpocephaly, Hypertonia, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:614019
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Joubert Syndrome 30
Cerebellar atrophy, Ventriculomegaly, Retinal dystrophy, Molar tooth sign on MRI, Superior cerebe... OMIM:617622
Alg6-Cdg
Rod-cone dystrophy, Ataxia, Cerebellar hypoplasia, Retinal degeneration ORPHA:79320
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Ventriculomegaly OMIM:619561
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Tongue f... ORPHA:276435
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Nephronophthisis 14
Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614844
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus... OMIM:615924
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Downslanted palpebral fissures, V... ORPHA:2185
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Severe temper tantrums, Aggressive behavior... OMIM:617710
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Aggressiv... OMIM:617225
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Pigmentary retinopathy, Dysphagia, Ptosis OMIM:619473
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn... ORPHA:163961
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Ce... OMIM:213200
Joubert Syndrome 10
Epicanthus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Rod-cone dystrophy, Downslante... OMIM:300804
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Joubert Syndrome 35
Telecanthus, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Synophrys, Oculomotor a... OMIM:618161
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, M... OMIM:616230
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Retinal dysplasia... OMIM:213300
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysm... OMIM:607694
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Neuro... ORPHA:314404
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Later... OMIM:619517
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... OMIM:615157
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy... ORPHA:255182
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... ORPHA:401815
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... OMIM:612438
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Ag... ORPHA:250972
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Cerebral... ORPHA:168491
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Abetalipoproteinemia
Ataxia, Retinopathy, Retinal degeneration OMIM:200100
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Abnormal pyramidal sign, Cerebral atrophy,... OMIM:617435
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemi... ORPHA:300573
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Paraparesis,... ORPHA:2822
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Optic disc pallor, Hypoplasia of the pons, Optic atrophy, Cerebral atrophy, H... OMIM:608027
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Rod-cone dystrophy, Retinal degeneration, Ptosis OMIM:266500
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Aggressive behavior, Hypoplasia of the pons, Synophrys, Gait ataxia, ... OMIM:618479
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio... OMIM:618404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, L... OMIM:613154
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Retinal dystrophy, Ataxia, Tremor, Dysmetria, Oculomotor apraxia, Rod-cone dy... OMIM:614867
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Almond-shaped palpebral fissure, Optic at... OMIM:620352
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Clumsiness, Spastic dysarthria, Cerebellar hypoplasi... ORPHA:314978
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Ce... OMIM:619971
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, ... ORPHA:500144
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Gait ataxia, Bradyk... ORPHA:71517
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction ve... ORPHA:99014
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdi... OMIM:610185
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Cerebral atrophy,... OMIM:617916
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Cerebral atrophy, Dysphagia, Ptosis OMIM:618637
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Retinal degeneration OMIM:249270
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Spa... OMIM:270200
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Myoclonus, Opp... OMIM:619028
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... ORPHA:79263
Vocal Cord Paralysis And Ptosis
Bilateral ptosis, Vocal cord paralysis OMIM:193240
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Polydipsia, Rod-cone dystrophy, Polyphagia, Retinal dege... OMIM:615986
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Dystonia, F... ORPHA:276244
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Retinal degeneration, Ve... OMIM:272200
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal pyramidal sign, Spastic diplegia, Macular degenerat... ORPHA:816
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Joubert Syndrome 20
Aggressive behavior, Self-mutilation, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI OMIM:614970
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Upslanted ... OMIM:617854
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Joubert Syndrome 33
Cone/cone-rod dystrophy, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617767
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Tongue thrusting, Abnormal pons morphology, La... ORPHA:77299
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hyperton... OMIM:619738
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Joubert Syndrome 7
Retinal dystrophy, Brainstem dysplasia, Ataxia, Hypoplasia of the brainstem, Oculomotor apraxia, ... OMIM:611560
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Oculomotor apraxia, Retinal degeneration, Ventriculo... OMIM:615630
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Spastic tetraparesis, Macular degeneration, Dystonia, Cerebral cort... ORPHA:404451
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex OMIM:601068
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Rigidity, Dysmetria, Gai... OMIM:618090
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Brain at... ORPHA:306669
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Abnormality of the seventh cranial nerve, Distal sensory imp... ORPHA:90117
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Dystonia, Progressive extra... ORPHA:401768
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, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydroce... OMIM:615181
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia OMIM:600116
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ... OMIM:162500
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Gait ataxia ORPHA:488635
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Dystonia, Tremor, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity, Ptosis OMIM:617664
Porphyria, Acute Hepatic
Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Autosomal Dominant Spastic Paraplegia Type 36
Lower limb spasticity, Impaired distal proprioception, Impaired temperature sensation, Abnormal b... ORPHA:320365
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle di... OMIM:618736
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... OMIM:618049
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Retinal detachment, Ventriculomegaly, Cerebral palsy, Ataxia, Aggr... OMIM:619833
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Joubert Syndrome 27
Ataxia, Gait ataxia, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI OMIM:617120
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, R... OMIM:615249
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Facial-lingual fasciculations, Substantia... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Facial-lingual fasciculations, Substantia... ORPHA:276241
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, ... OMIM:614381
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Tremor, Narrow palpebral fissure, Inappropriate laughter, Self-mutilation OMIM:616269
Joubert Syndrome 40
Almond-shaped palpebral fissure, Oculomotor apraxia, Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Babinski sign, Hypertonia, Neurodegeneration, Arm dystonia, ... ORPHA:79244
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... OMIM:600363
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Malan Overgrowth Syndrome
Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainst... ORPHA:420179
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Oculomo... ORPHA:529665
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Incoordination, Tremor, Paraparesi... OMIM:302800
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat... OMIM:615994
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Blepharo... OMIM:606159
Joubert Syndrome 22
Agenesis of cerebellar vermis, Temporal cortical atrophy, Retinal dysplasia, Oculomotor apraxia, ... OMIM:615665
Myopathy With Extrapyramidal Signs
Ptosis, Epicanthus, Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Cho... OMIM:615673
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... OMIM:616505
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia... ORPHA:572798
Joubert Syndrome 15
Retinal dystrophy, Ataxia, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI OMIM:614464
Orofaciodigital Syndrome Xvi
Ataxia, Short palpebral fissure, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI, Ventri... OMIM:617563
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Epicanthus, Tremor, Retrobulbar optic neuritis, ... OMIM:619737
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Restless legs, Somatic sensory dysfunction, Ataxia, ... ORPHA:94147
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal sensory impairment, Paralysis OMIM:613710
Joubert Syndrome 16
Oculomotor apraxia, Retinal dystrophy, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex, Myoclonus OMIM:613608
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Dysmetria OMIM:617917
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:615558
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy, Clumsiness ORPHA:324422
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Neuroferritinopathy
Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, T... ORPHA:157846
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Retinal dystrophy, Abnormal brainstem morphology, Abnormal pons mor... ORPHA:370997
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Ataxia, Clonus, Bilateral ptosis, Babinski sign, Abnormal pyramidal sign, Dys... OMIM:616479
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Ptosis OMIM:612016
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment OMIM:618387
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Lennox-Gastaut Syndrome
Hyperactivity, Abnormal brainstem morphology, Myoclonus, Aggressive behavior ORPHA:2382
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Babinski sign, Optic atro... ORPHA:289560
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Tremor, Impaired pain sensation ORPHA:101075
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Dysp... OMIM:159950
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Molar tooth si... OMIM:612291
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Epicanthus, Thick eyebrow, Corpus callosum atrophy, Babinski sign, Abnormal p... OMIM:248500
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Chorioretinal coloboma, Oculomotor apraxia, Agenesis... OMIM:619111
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal si... ORPHA:254930
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... ORPHA:73256
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... ORPHA:565624
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Dysphagia OMIM:607734
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Ab... ORPHA:363722
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Bab... ORPHA:52368
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Highly arched eyebrow, At... ORPHA:220493
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg... OMIM:312080
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Lateral ventricle dilatati... OMIM:221770
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Ataxia, Morning glory anomaly, Corpus callosum atrophy, Spastic paraplegia, O... ORPHA:98673
Ethylmalonic Encephalopathy
Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormality of extrapyr... ORPHA:51188
Pontocerebellar Hypoplasia, Type 7
Epicanthus, Ataxia, Hypoplasia of the pons, Synophrys, Hydrocephalus, Optic atrophy, Spastic para... OMIM:614969
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr... OMIM:615574
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... ORPHA:228360
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Patchy atrophy of the retinal pigment epithelium, Upslanted palpebral fissure, Po... ORPHA:436245
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... OMIM:300894
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypertonia, Optic nerve hypoplasia, Spasticity OMIM:618890
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... ORPHA:314632
Japanese Encephalitis
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... ORPHA:79139
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Cerebellar atrophy, Dysto... OMIM:606002
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Tremor, Impaired pain sensation ORPHA:101078
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia OMIM:128235
Scheie Syndrome
Retinal degeneration OMIM:607016
Joubert Syndrome 14
Epicanthus, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Highly arched ey... OMIM:614424
47,Xyy Syndrome
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Abnormal bra... ORPHA:8
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Jaberi-Elahi Syndrome
Appendicular spasticity, Sparse eyelashes, Sparse eyebrow, Tremor, Optic atrophy, Dysmetria, Gait... OMIM:617988
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Eyelid myoclonus, Clumsiness, Myoclonus, Dysphagi... ORPHA:2590
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Adams-Oliver Syndrome 2
Hydrocephalus, Optic atrophy, Cerebral atrophy, Retrocerebellar cyst, Narrow palpebral fissure, L... OMIM:614219
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... ORPHA:206448
Joubert Syndrome 9
Oculomotor apraxia, Retinal dystrophy, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Congenital fibrosis of ext... ORPHA:300570
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Babi... OMIM:128100
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor c... ORPHA:25
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi... ORPHA:93256
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Tremor, Optic atrophy, Pontocerebellar atrophy, Downslanted palpebral fissures, Retinopat... OMIM:608799
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Retinal dystrophy, Ataxia, Brain... OMIM:608091
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Facial palsy, Action tremor, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyr... OMIM:607483
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atro... OMIM:615838
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia OMIM:617836
Joubert Syndrome 31
Oculomotor apraxia, Molar tooth sign on MRI, Ventriculomegaly, Truncal ataxia OMIM:617761
Wolfram Syndrome 1
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Dysphagia, Ptosis OMIM:222300
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Upslanted palpebral fissure, Impaired tactile sensation, Hypertonia,... OMIM:619092
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Tongue th... ORPHA:3095
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Agenesis of corp... OMIM:312170
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebral atrophy, Hypoplasia of the brainstem OMIM:618266
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, D... OMIM:610217
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Vent... OMIM:619556
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic paraplegia, Cerebral atro... ORPHA:83629
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Spastic paraplegia, Cerebral atro... OMIM:617296
Joubert Syndrome 25
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:616781
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Highly arched eyebrow, Syn... OMIM:617751
Choroidal Atrophy-Alopecia Syndrome
Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epithelium, Abnormality of reti... ORPHA:1433
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Epicanthus, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Tremor, Abnormal repetitiv... OMIM:618342
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the macula, L... ORPHA:845
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Impaired distal vibrat... OMIM:208920
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Optic atrophy, Lateral ventricle dilatation, Hypertonia, Cerebellar hyp... ORPHA:3078
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Cerebral atrophy, Compulsive behaviors OMIM:619405
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Hydrocephalus, Ocular albinism, Abnormal brainstem morphology, Hypertonia, Aplasia/Hypopl... ORPHA:2720
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal a... ORPHA:98764
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Absent eyelashes, Chiari type I malformation, Rod-cone dystrophy, Downslanted pal... ORPHA:166035
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Periodic paralysis, Ptosis OMIM:614198
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Spa... OMIM:619955
Joubert Syndrome 17
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Abnormal retinal morphology OMIM:614615
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Highly arched eyebrow, At... ORPHA:2318
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Epicanthus, Cerebellar vermis hypoplasia, Retinal dystrophy, Ventriculomegaly, Abnormal cerebellu... ORPHA:397715
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babinski sign, D... ORPHA:88644
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Dystonia, Downslan... OMIM:614105
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Lissencephaly 9 With Complex Brainstem Malformation
Epicanthus, Cerebellar vermis hypoplasia, Involuntary movements, Hypoplasia of the pons, Hypoplas... OMIM:618325
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysp... OMIM:261640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Ventriculomegaly, Retinal atrophy, Optic nerve hypoplasia, Hydrocephalus, Opt... OMIM:236670
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Sparse eyebrow, Syno... OMIM:617193
Leber Optic Atrophy
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Spasticity, Hypoplasia of the re... OMIM:253280
Trichothiodystrophy
Epicanthus, Ventriculomegaly, Partial agenesis of the corpus callosum, Paraplegia/paraparesis, Ab... ORPHA:33364
4Q21 Microdeletion Syndrome
Tremor, Synophrys, Self-injurious behavior, Agenesis of corpus callosum, Long eyelashes, Cerebell... ORPHA:238750
Sialidosis Type 2
Tremor, Ataxia, Abnormal macular morphology ORPHA:87876
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap... ORPHA:43
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Impaired vibration sensation in the lower limbs, Gait... ORPHA:95433
Pyruvate Dehydrogenase Deficiency
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Upslanted palpebral fissure,... ORPHA:765
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, Brain atrophy, Bruxism, Spasticity, Abnormal repe... OMIM:618718
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... ORPHA:240085
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ventriculomegaly, Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality,... ORPHA:581
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Sen... ORPHA:445062
Encephalocraniocutaneous Lipomatosis
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2396
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Abnormal cerebellum morphology, Spastic paraplegia, Abnormal pyramidal sign, Distal... OMIM:256850
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,... OMIM:609583
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Brown-Vialetto-Van Laere Syndrome 1
Ptosis, Ataxia, Facial palsy, Abnormal cerebellum morphology, Vocal cord paralysis, Dysphagia, Cl... OMIM:211530
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sparse eyelashes, Aggressive behavior, Absent eyelashes, Bilateral ptosis, Sparse... ORPHA:544488
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,... ORPHA:363400
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Involuntary movements, Aggressive behavior, Abnormal brainst... ORPHA:83597
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Cerebellar atrophy, Babinski sign, Cerebral atrophy, G... OMIM:616192
Pontocerebellar Hypoplasia, Type 13
Epicanthus, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Gait ataxia, Lateral ventricle ... OMIM:618606
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Epicanthus, Exaggerated startle response, Tremor, Abnormal cerebellum morphol... OMIM:618056
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia,... OMIM:168600
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia, Ptosis ORPHA:230800
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Amyloid deposition in the vitreous humor, Abnormal pyramidal sign, Paraplegia, Li... OMIM:105210
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Leigh Syndrome
Chorea, Choreoathetosis, Abnormal optic nerve morphology, Agenesis of corpus callosum, Ataxia, Ab... ORPHA:506
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor fine motor coordination, Retinal degeneration ORPHA:542306
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Dysmetria, Limb ataxia, Distal sensory impairment, Pigmentary retinopathy, Dysdia... OMIM:617675
Joubert Syndrome 5
Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Aggressive be... OMIM:610188
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Band Heterotopia
Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom... OMIM:600348
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Hemiparesis, Fusion of the left a... OMIM:617542
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Pigmentary retinopathy, Progre... ORPHA:502423
Variegate Porphyria
Paralysis OMIM:176200
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Hydro... ORPHA:220497
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysphagia, Limb hypertonia OMIM:233910
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagia, Rhombencephalosynap... ORPHA:280195
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... OMIM:137440
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Tetr... OMIM:616267
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Babinski sign, Vocal cord pa... ORPHA:268882
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Spastic tetraplegi... OMIM:619306
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Agitation, Spa... ORPHA:803
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Colpoceph... OMIM:615219
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opis... OMIM:619847
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Generalized cerebral ... ORPHA:36387
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Downsla... OMIM:250410
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Halperin-Birk Syndrome
Optic atrophy, Spastic tetraplegia, Colpocephaly, Hypertonia, Long eyelashes, Pseudobulbar paraly... OMIM:618651
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy, Ptosis ORPHA:168549
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... OMIM:601152
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... ORPHA:297
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor ... OMIM:617013
Glutathionuria
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Retinal dystrophy, Agenesis of cerebellar... OMIM:243910
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Progressive spasticity, Ptosis OMIM:619972
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Dysphagia, Right hemiple... OMIM:607426
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Limb trem... OMIM:218000
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Cerebral cortical atrophy, Spastic tetraparesis, Dystonia OMIM:617668
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, Aggressive behavior... ORPHA:3077
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Facial palsy, Bilateral ves... ORPHA:637
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Cerebellar gliosis, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ve... ORPHA:79243
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Upslanted palpebral fissure, Lateral ventricle dilatation, Abnormal rep... OMIM:613443
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia, Choreoa... OMIM:618877
Radio-Tartaglia Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Long eyebrows, Tremor, Abnormal repetitive mannerisms,... OMIM:619312
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Cerebellar atrophy, Frequent falls, Impaired pain sens... ORPHA:99949
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... OMIM:607876
Joubert Syndrome 39
Pain insensitivity, Cerebellar vermis hypoplasia, Retinal dystrophy, Oculomotor apraxia, Molar to... OMIM:619562
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen... OMIM:616586
Coach Syndrome 1
Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellar ver... OMIM:216360
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia OMIM:613612
Cog8-Cdg
Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Ventriculome... ORPHA:95428
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Upslanted palpebral fissure, Lateral ventricle dilatation, Involuntary movements, Bruxism OMIM:615716
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia, Ptosis OMIM:619790
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, Myoclonus, Cherry red spot o... ORPHA:812
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Ataxia, Hypera... OMIM:209900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Angelman Syndrome
Optic disc pallor, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Tongue thrusting, Optic at... ORPHA:72
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Macular coloboma, Atrophy of the spinal cord, Hydrocephalus, Optic atrophy, Cerebral atro... ORPHA:79282
Superficial Siderosis
Cerebellar atrophy, Enlarged sylvian cistern, Ataxia, Impaired temperature sensation, Impaired pa... ORPHA:247245
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Retinal dystrophy, Ataxia ORPHA:713
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy, Lateral ve... OMIM:619244
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Restlessness, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atroph... OMIM:617186
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agita... OMIM:607485
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Vocal cord paralysis, Optic atrophy, Dis... ORPHA:99956
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic movements, Upper limb... ORPHA:457240
Martsolf Syndrome 2
Lateral ventricle dilatation, Spastic diplegia, Brain atrophy OMIM:619420
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscular dysphag... ORPHA:240071
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Nephronophthisis 11
Polydipsia, Retinal degeneration OMIM:613550
Snakebite Envenomation
Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Hypopituitarism ORPHA:449285
Familial Acute Necrotizing Encephalopathy
Rigidity, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Spastic tetrapl... ORPHA:88619
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... OMIM:146500
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Pigmentary retinopathy, Ataxia ORPHA:79095
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Unilateral Hemispheric Polymicrogyria
Hemiparesis, Lateral ventricle dilatation ORPHA:101071
Bilateral Polymicrogyria
Cerebellar atrophy, Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Cerebella... ORPHA:268940
Foodborne Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia, Ptosis ORPHA:228371
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Global Developmental Delay With Or Without Impaired Intellectual Development
Long palpebral fissure, Lateral ventricle dilatation, Poor fine motor coordination OMIM:618330
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Hypertonia, Retinal degeneration, Inten... ORPHA:191
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Optic disc co... ORPHA:1454
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Dys... ORPHA:139396
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Trichiasis, Highly arched eyebrow, Epiblepharon, Pigmentary retinop... OMIM:618460
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia, Ptosis OMIM:618731
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Hypertensive retinopathy, Vocal cord paralysis ORPHA:94080
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Anorexia, Paraparesis, Hyperkinetic movement... ORPHA:2912
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Dystonia, Ataxia, Repetitive compulsive behavior, Optic atrophy, Atrophy/D... ORPHA:66634
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Dec... ORPHA:2388
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Orbita... OMIM:120330
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Epicanthus, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Self-injurious behavio... OMIM:620075
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Joubert Syndrome
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Hydro... ORPHA:475
Hurler Syndrome
Bilateral ptosis, Hydrocephalus, Neurodegeneration, Retinal degeneration OMIM:607014
Rift Valley Fever
Retinitis, Anorexia, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Retinal vasculiti... ORPHA:319251
Chromosome 18Q Deletion Syndrome
Epicanthus, Ventriculomegaly, Decreased response to growth hormone stimulation test, Tremor, Chor... OMIM:601808
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Spastic tetraparesis, Lateral ventricle dilatation, Hypertonia, Myo... ORPHA:284417
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor, Dysphagia ORPHA:397744
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Colpocephaly, Dys... OMIM:620083
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... OMIM:212065
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Upslanted palpebral fissure, Hypoplasia of the brainstem, Cerebe... OMIM:617822
Aicardi Syndrome
Retinal detachment, Cerebellar vermis hypoplasia, Chorioretinal lacunae, Partial agenesis of the ... OMIM:304050
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Duplication Of The Pituitary Gland
Lower limb spasticity, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnorma... ORPHA:314621
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Optic atrophy, Chorioretinal atrophy, Spastic tetraplegia, Spastic diplegia... OMIM:619487
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Rigidity, Tremor, Blepharospasm, Bradykinesia, Dysphagia, Neuronal loss in... ORPHA:683
Distal Deletion 10Q
Epicanthus, Ataxia, Clonus, Aggressive behavior, Spasticity, Upslanted palpebral fissure, Facial ... ORPHA:96148
Alg2-Cdg
Epicanthus, Downslanted palpebral fissures, Lateral ventricle dilatation ORPHA:79326
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Epicanthus, Hemidystonia, Aggressive behavior, Tremor, Upslanted pal... OMIM:619680
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Imp... ORPHA:580
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Retinal degeneration ORPHA:96179
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:216400
Knobloch Syndrome
Retinal detachment, Epicanthus, Hydrocephalus, Abnormal vitreous humor morphology, Macular degene... ORPHA:1571
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:616602
Alexander Disease
Ataxia, Facial palsy, Clonus, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnormal pyrami... ORPHA:58
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Thick eyebrow, Ataxia, Tremor, Abnormal repetitive mannerisms, Stereotypic... OMIM:619229
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Chiari t... ORPHA:221098
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Keratoconjunctivitis s... ORPHA:90324
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Epicanthus, Palpebral edema, Optic nerve dysplasia, Optic atrophy, Pigmentary... OMIM:614866
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Upslanted palpebral fissure, Colpocephaly, Dysphag... ORPHA:261250
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Chia... OMIM:609053
Say-Barber-Miller Syndrome
Highly arched eyebrow, Sparse eyebrow, Babinski sign, Optic atrophy, Upslanted palpebral fissure,... ORPHA:3132
Weiss-Kruszka Syndrome
Epicanthus, Highly arched eyebrow, Agenesis of corpus callosum, Colpocephaly, Downslanted palpebr... OMIM:618619
Holoprosencephaly 5
Upslanted palpebral fissure, Synophrys, Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic hemiple... ORPHA:2131
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... OMIM:620327
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Spastic tetraparesis, Cerebral atrophy, Lateral... ORPHA:356961
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Glutaric Acidemia I
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... OMIM:231670
Farber Disease
Paraparesis, Macular degeneration, Abnormal conjunctiva morphology, Myoclonus, Brain atrophy, Che... ORPHA:333
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Abnormal temp... ORPHA:2072
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... OMIM:618914
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Bilateral pt... ORPHA:485
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Aggressive behavior, Sparse eyebrow, Cerebral atrophy, Agenesis of corpus callosum, L... ORPHA:464738
Werner Syndrome
Retinal degeneration OMIM:277700
Bohring-Opitz Syndrome
Retinal atrophy, Synophrys, Optic atrophy, Lower limb hypertonia, Dandy-Walker malformation, Agen... ORPHA:97297
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Abnormal autonomic nervous... ORPHA:2828
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Bradykinesia, Dy... OMIM:615530
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Rigidity, Tremor, Neuromuscular dysphagia, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculo... ORPHA:240094
Meningioma
Papilledema, Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Facial ... ORPHA:2495
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Synophrys, Hydrocephalus, Cerebral atrophy, Narrow palpebral fissure, Colpocephaly, Agenesis of c... OMIM:620156
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Later... ORPHA:263487
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Abnormal brainstem morphology, Posterior pituitary hypopla... ORPHA:464311
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Hydrocephalus, Obsessive-compulsive trait, Abnormal temper tant... ORPHA:500055
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Telecanthus, Partial agenesis of the corpus callosum, Upslanted palpebr... ORPHA:434179
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Abnormal pyramida... ORPHA:447753
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dystonia OMIM:168605
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, Frequent falls, Intention tremor OMIM:619995
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbrain morp... ORPHA:68
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Epiblepharon, Lateral ventricle dilatation, Hyp... OMIM:618367
Gabriele-De Vries Syndrome
Telecanthus, Sparse eyebrow, Epiblepharon, Tremor, Lateral ventricle dilatation, Attention defici... OMIM:617557
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Exudative retinop... OMIM:612199
Bainbridge-Ropers Syndrome
Epicanthus, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Upslanted palpebral... OMIM:615485
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Brain atrophy OMIM:610015
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Axonal degeneration, Vocal cord paralysis OMIM:615490
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign OMIM:614947
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Tremor, Optic atrophy, Dystonia, Ventriculomegaly OMIM:610505
Joubert Syndrome 38
Epicanthus, Cerebellar vermis hypoplasia, Ectopic posterior pituitary, Decreased response to grow... OMIM:619476
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations ORPHA:682
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious behavior, Lateral ventric... OMIM:619575
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Abnormality of the auto... ORPHA:43116
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebral corti... OMIM:618291
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Telecanthus, Epicanthus, Ventriculomegaly, Decreased response to growth hormone stimulation test,... OMIM:617260
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Retinal coloboma, Molar... OMIM:616546
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Lateral ventricle dilatation, Downslanted palpebral fissures, Abnorm... ORPHA:457279
Inhalational Botulism
Paralysis, Ptosis ORPHA:254504
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Sparse eyebrow, Hypoplasia of the pons, Hypoplasia of the brainstem... ORPHA:444072
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Cranial nerve compression, Hypertensive retinopathy, Vocal cord paralysis ORPHA:276621
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Hydrocephalus, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Cere... OMIM:277400
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Pineoblastoma
Papilledema, Retinoblastoma, Paralysis ORPHA:251909
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Epicanthus, Retinal dystrophy, Ataxia, Upslanted palpebral fissure, Macular degeneration, Rod-con... OMIM:266920
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Paralysis OMIM:176000
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Cho... ORPHA:1855
Gitelman Syndrome
Salt craving, Ataxia, Paralysis, Paresthesia, Polydipsia OMIM:263800
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Downslanted palpebral fissures OMIM:301025
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral palsy, Poor gross motor coordination, Lateral ventricle dilatation, Agitation, Dysphagia ORPHA:2148
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Ectropion OMIM:242100
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia OMIM:601374
Glioblastoma
Paralysis ORPHA:360
Dpagt1-Cdg
Ataxia, Aggressive behavior, Tremor, Abnormal cerebellum morphology, Optic atrophy, Head-banging,... ORPHA:86309
Weaver Syndrome
Epicanthus, Slurred speech, Polyphagia, Poor fine motor coordination, Lateral ventricle dilatatio... OMIM:277590
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Sparse eyelashes, Hooded eyelid, Hydrocephalus, Upslanted palpebra... OMIM:612863
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia ORPHA:684
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, ... OMIM:601104
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Clonus, Sparse eyebrow, Bilateral ptosis, Synophrys, Enlarged cerebellum, Colpocephaly, Lower lim... ORPHA:477993
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Synophrys, Partial agenesis of the corpus callosum, Narrow palpebr... OMIM:620113
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Cerebral atrophy, Athetosis... OMIM:615356
Familial Cerebral Saccular Aneurysm
Hemiparesis, Abnormal brainstem morphology ORPHA:231160
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... OMIM:203700
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Sparse eyebrow, Narrow... OMIM:619869
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Retinal capill... ORPHA:29072
Alobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... ORPHA:93926
Lobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... ORPHA:93924
Semilobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... ORPHA:220386
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... ORPHA:79102
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagia, Cerebra... ORPHA:488627
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E... OMIM:615873
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Upslanted palpebral fissure, ... OMIM:611209
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Cerebral atrophy, Dystonia, Spasticity OMIM:615512
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Alport Syndrome
Macular degeneration, Retinal flecks, Dysphagia ORPHA:63
Vici Syndrome
Epicanthus, Cerebellar vermis hypoplasia, Macular atrophy, Ocular albinism, Macular hypoplasia, D... OMIM:242840
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Decerebrate rigidity, Progre... ORPHA:512
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Gaucher Disease
Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormal macular morphology, Abnormality o... ORPHA:355
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Aggressive behavior, Vocal cord paralysis, Hyp... OMIM:617799
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Short palpebral fissure, Periodic ... ORPHA:37553
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Tremor, Bilateral ptosis, Brain atrophy, Dysphagia, Ptosis OMIM:164310
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Cerebral atrophy, Hypertonia, Dysphagia, Neonatal death, Ventriculomegaly OMIM:617248
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity OMIM:176500
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation OMIM:612301
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Tetraparesis ORPHA:2785
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:617397
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Dysplastic corpus callosum, Upslanted palpebral fissure, Colpocephaly, Chiari malform... OMIM:618820
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Almond-shap... ORPHA:177907
Andersen Cardiodysrhythmic Periodic Paralysis
Blepharophimosis, Periodic hypokalemic paresis, Short palpebral fissure, Periodic paralysis OMIM:170390
Noonan Syndrome 14
Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Lateral ventricle dilatation, Downslanted pal... OMIM:619745
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Dysmetria, Gait ataxia, Colpocephaly, Cerebellar hypoplasia, Short palpebr... ORPHA:75857
Congenital Disorder Of Glycosylation, Type Iim
Epicanthus, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Rod-cone dystr... OMIM:300896
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Congenital bilateral ptosis, Agenesis of corpus callosum, Lateral v... ORPHA:1692
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Abnormal midbrain morphology, Aggressive b... ORPHA:293987
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Upslanted palpebral fissure, Abnormal pons morphology, Lateral ventricle d... OMIM:300868
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Epicanthus, Diffuse cerebral atrophy, Aganglionic megacolon, Hyperactivity, A... OMIM:270400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Epicanthus, Optic nerve hypoplasia, Sparse eyebrow, Dysplastic corpus callosum, Optic atrophy, La... ORPHA:500150
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration, Aplasia/Hypoplasia of the eyebrow ORPHA:79474
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Epicanthus, Aggressive behavior, Synophrys, Optic disc coloboma, Optic atrophy... OMIM:607872
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Retinal dystrophy OMIM:263520
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis, Brain stem compression OMIM:602080
Friedreich Ataxia 2
Impaired vibratory sensation, Incoordination, Abnormal medulla oblongata morphology, Ataxia, Babi... OMIM:601992
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Tremor, Increased ci... ORPHA:91347
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cerebellar vermis, Molar t... OMIM:619479
Igg4-Related Thyroid Disease
Vocal cord paralysis, Abnormal pituitary gland morphology, Abnormality of the ocular adnexa, Dysp... ORPHA:64744
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Facial palsy, Dysphagia ORPHA:258
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Colpocephaly OMIM:301043
Listeriosis
Somatic sensory dysfunction, Ataxia, Tremor, Abnormal brainstem MRI signal intensity, Hemiparesis... ORPHA:533
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Trichiasis, Highly arched eyebrow, Aggressi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Trichiasis, Highly arched eyebrow, Aggressi... ORPHA:353277
Gitelman Syndrome
Polydipsia, Salt craving, Paresthesia, Paralysis ORPHA:358
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Opisthotonus, Lateral ventricle dilatation, Hypertonia, Shallow orbits OMIM:614098
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Blepharophimosis, Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Distal Renal Tubular Acidosis
Polydipsia, Paralysis ORPHA:18
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation, Lacrimal duct atresia OMIM:300952
Achondroplasia
Brain stem compression, Hydrocephalus OMIM:100800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypoplasia, ... ORPHA:261537
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Brain stem co... ORPHA:666
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Narrow palpebral fissure, Latera... OMIM:181270
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Sparse eyelashes, Cerebellar vermis hypoplasia, Sparse eyebrow, Hy... OMIM:210710
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Chiari type I malformation, Abnormal repetitive mannerisms, Agenesi... ORPHA:261552
Kabuki Syndrome 1
Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Hydrocephalus, Prominent eyelashes, Late... OMIM:147920
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Somatic sensory dysfunction, Retinal pigment epitheli... ORPHA:64
Genitopatellar Syndrome
Agenesis of corpus callosum, Colpocephaly, Downslanted palpebral fissures, Dysphagia OMIM:606170

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 Atp1b2

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 Atp1b2.

No publications found that use IMPC mice or data for Atp1b2.

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
Atp1b2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp1b2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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