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 |
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Retinal dystrophy, Brainstem dysplasia, Ataxia, Hypoplasia of the brainstem, Oculomotor apraxia, ... |
OMIM:611560 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Cerebellar vermis hypoplasia, Hydrocephalus, Oculomotor apraxia, Retinal degeneration, Ventriculo... |
OMIM:615630 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... |
ORPHA:521406 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
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Choroidal neovascularization, Spastic tetraparesis, Macular degeneration, Dystonia, Cerebral cort... |
ORPHA:404451 |
Epilepsy, Familial Adult Myoclonic, 1 |
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Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Rigidity, Dysmetria, Gai... |
OMIM:618090 |
Parkinsonism-Dystonia 1, Infantile-Onset |
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Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Leukoencephalopathy With Ataxia |
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Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Retinitis Pigmentosa 9 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Brain at... |
ORPHA:306669 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Somatic sensory dysfunction, Tremor, Abnormality of the seventh cranial nerve, Distal sensory imp... |
ORPHA:90117 |
Proximal Myopathy With Extrapyramidal Signs |
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Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Dystonia, Progressive extra... |
ORPHA:401768 |
Retinitis Pigmentosa 80 |
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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 |
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Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydroce... |
OMIM:615181 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia |
OMIM:600116 |
Dystonia 3, Torsion, X-Linked |
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Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ... |
OMIM:162500 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
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Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Gait ataxia |
ORPHA:488635 |
Combined Oxidative Phosphorylation Deficiency 32 |
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Cerebellar atrophy, Dystonia, Tremor, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity, Ptosis |
OMIM:617664 |
Porphyria, Acute Hepatic |
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Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
Autosomal Dominant Spastic Paraplegia Type 36 |
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Lower limb spasticity, Impaired distal proprioception, Impaired temperature sensation, Abnormal b... |
ORPHA:320365 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Optic nerve hypoplasia, Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle di... |
OMIM:618736 |
Epilepsy, Familial Adult Myoclonic, 4 |
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Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
Spinocerebellar Ataxia 42 |
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Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Parkinsonism-Dystonia 2, Infantile-Onset |
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Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Medial flaring of the eyebrow, Retinal detachment, Ventriculomegaly, Cerebral palsy, Ataxia, Aggr... |
OMIM:619833 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Joubert Syndrome 27 |
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Ataxia, Gait ataxia, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI |
OMIM:617120 |
Myopia 28, Autosomal Recessive |
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Retinal detachment |
OMIM:619781 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, R... |
OMIM:615249 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Machado-Joseph Disease Type 1 |
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Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Facial-lingual fasciculations, Substantia... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Facial-lingual fasciculations, Substantia... |
ORPHA:276241 |
Ataxia With Vitamin E Deficiency |
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Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Leber Congenital Amaurosis 9 |
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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 |
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Cerebellar atrophy, Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, ... |
OMIM:614381 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
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Aggressive behavior, Tremor, Narrow palpebral fissure, Inappropriate laughter, Self-mutilation |
OMIM:616269 |
Joubert Syndrome 40 |
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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 |
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Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Spastic Paraplegia 6, Autosomal Dominant |
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Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... |
OMIM:600363 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
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Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
Malan Overgrowth Syndrome |
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Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainst... |
ORPHA:420179 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
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Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Oculomo... |
ORPHA:529665 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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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 |
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Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Blepharo... |
OMIM:606159 |
Joubert Syndrome 22 |
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Agenesis of cerebellar vermis, Temporal cortical atrophy, Retinal dysplasia, Oculomotor apraxia, ... |
OMIM:615665 |
Myopathy With Extrapyramidal Signs |
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Ptosis, Epicanthus, Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Cho... |
OMIM:615673 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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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 |
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Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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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 |
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Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious behavior, Lateral ventric... |
OMIM:619575 |
Serotonin Syndrome |
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Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Abnormality of the auto... |
ORPHA:43116 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebral corti... |
OMIM:618291 |
Hypermanganesemia With Dystonia 1 |
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Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Senior-Loken Syndrome 8 |
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Rod-cone dystrophy, Retinal dystrophy, Macular atrophy |
OMIM:616307 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Telecanthus, Epicanthus, Ventriculomegaly, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Retinal coloboma, Molar... |
OMIM:616546 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Aggressive behavior, Lateral ventricle dilatation, Downslanted palpebral fissures, Abnorm... |
ORPHA:457279 |
Inhalational Botulism |
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Paralysis, Ptosis |
ORPHA:254504 |
Cerebellar-Facial-Dental Syndrome |
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Abnormal midbrain morphology, Sparse eyebrow, Hypoplasia of the pons, Hypoplasia of the brainstem... |
ORPHA:444072 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Tremor, Cranial nerve compression, Hypertensive retinopathy, Vocal cord paralysis |
ORPHA:276621 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Tremor, Hydrocephalus, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Cere... |
OMIM:277400 |
Hypokalemic Periodic Paralysis, Type 1 |
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Periodic paralysis |
OMIM:170400 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Pineoblastoma |
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Papilledema, Retinoblastoma, Paralysis |
ORPHA:251909 |
Niemann-Pick Disease Type C |
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Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... |
ORPHA:646 |
Laryngeal Abductor Paralysis |
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Vocal cord paralysis, Dysphagia |
OMIM:150260 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Epicanthus, Retinal dystrophy, Ataxia, Upslanted palpebral fissure, Macular degeneration, Rod-con... |
OMIM:266920 |
Porphyria, Acute Intermittent |
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Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
Spondyloenchondrodysplasia |
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Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Cho... |
ORPHA:1855 |
Gitelman Syndrome |
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Salt craving, Ataxia, Paralysis, Paresthesia, Polydipsia |
OMIM:263800 |
Paganini-Miozzo Syndrome |
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Lateral ventricle dilatation, Downslanted palpebral fissures |
OMIM:301025 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Cerebral palsy, Poor gross motor coordination, Lateral ventricle dilatation, Agitation, Dysphagia |
ORPHA:2148 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Paralysis, Ectropion |
OMIM:242100 |
Aprosencephaly And Cerebellar Dysgenesis |
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Absent mesencephalon, Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia |
OMIM:601374 |
Glioblastoma |
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Paralysis |
ORPHA:360 |
Dpagt1-Cdg |
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Ataxia, Aggressive behavior, Tremor, Abnormal cerebellum morphology, Optic atrophy, Head-banging,... |
ORPHA:86309 |
Weaver Syndrome |
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Epicanthus, Slurred speech, Polyphagia, Poor fine motor coordination, Lateral ventricle dilatatio... |
OMIM:277590 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Medial flaring of the eyebrow, Sparse eyelashes, Hooded eyelid, Hydrocephalus, Upslanted palpebra... |
OMIM:612863 |
Paramyotonia Congenita Of Von Eulenburg |
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Periodic hypokalemic paresis, Dysphagia |
ORPHA:684 |
Pseudohypoaldosteronism Type 2 |
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Periodic paralysis |
ORPHA:757 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, ... |
OMIM:601104 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Clonus, Sparse eyebrow, Bilateral ptosis, Synophrys, Enlarged cerebellum, Colpocephaly, Lower lim... |
ORPHA:477993 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Medial flaring of the eyebrow, Synophrys, Partial agenesis of the corpus callosum, Narrow palpebr... |
OMIM:620113 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Cerebral atrophy, Athetosis... |
OMIM:615356 |
Familial Cerebral Saccular Aneurysm |
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Hemiparesis, Abnormal brainstem morphology |
ORPHA:231160 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... |
OMIM:203700 |
Neurocardiofaciodigital Syndrome |
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Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Sparse eyebrow, Narrow... |
OMIM:619869 |
Hereditary Pheochromocytoma-Paraganglioma |
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Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Retinal capill... |
ORPHA:29072 |
Alobar Holoprosencephaly |
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Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:220386 |
Thyrotoxic Periodic Paralysis |
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Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... |
ORPHA:79102 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagia, Cerebra... |
ORPHA:488627 |
Helsmoortel-Van Der Aa Syndrome |
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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 |
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Retinal degeneration |
OMIM:208500 |
Congenital Disorder Of Glycosylation, Type Iig |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Upslanted palpebral fissure, ... |
OMIM:611209 |
Triosephosphate Isomerase Deficiency |
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Optic disc pallor, Tremor, Cerebral atrophy, Dystonia, Spasticity |
OMIM:615512 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
Alport Syndrome |
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Macular degeneration, Retinal flecks, Dysphagia |
ORPHA:63 |
Vici Syndrome |
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Epicanthus, Cerebellar vermis hypoplasia, Macular atrophy, Ocular albinism, Macular hypoplasia, D... |
OMIM:242840 |
Metachromatic Leukodystrophy |
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Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Decerebrate rigidity, Progre... |
ORPHA:512 |
Parkinson Disease 21 |
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Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Gaucher Disease |
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Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormal macular morphology, Abnormality o... |
ORPHA:355 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Aggressive behavior, Vocal cord paralysis, Hyp... |
OMIM:617799 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Pigmentary retinopathy, Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Hyperkalemic Periodic Paralysis |
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Periodic hyperkalemic paralysis |
OMIM:170500 |
Andersen-Tawil Syndrome |
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Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Short palpebral fissure, Periodic ... |
ORPHA:37553 |
Oculopharyngodistal Myopathy 1 |
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Ataxia, Facial palsy, Tremor, Bilateral ptosis, Brain atrophy, Dysphagia, Ptosis |
OMIM:164310 |
3-Methylglutaconic Aciduria, Type Viii |
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Dystonia, Clonus, Tremor, Cerebral atrophy, Hypertonia, Dysphagia, Neonatal death, Ventriculomegaly |
OMIM:617248 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation |
OMIM:612301 |
Osteopetrosis With Renal Tubular Acidosis |
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Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Tetraparesis |
ORPHA:2785 |
Pseudohypoaldosteronism, Type Iia |
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Periodic hyperkalemic paralysis |
OMIM:145260 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
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Paralysis |
OMIM:612300 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Periodic paralysis |
OMIM:188580 |
Pseudo-Torch Syndrome 2 |
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Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:617397 |
Genitourinary And/Or Brain Malformation Syndrome |
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Epicanthus, Dysplastic corpus callosum, Upslanted palpebral fissure, Colpocephaly, Chiari malform... |
OMIM:618820 |
Prader-Willi Syndrome Due To Translocation |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Almond-shap... |
ORPHA:177907 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Blepharophimosis, Periodic hypokalemic paresis, Short palpebral fissure, Periodic paralysis |
OMIM:170390 |
Noonan Syndrome 14 |
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Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Lateral ventricle dilatation, Downslanted pal... |
OMIM:619745 |
6Q Terminal Deletion Syndrome |
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Highly arched eyebrow, Dysmetria, Gait ataxia, Colpocephaly, Cerebellar hypoplasia, Short palpebr... |
ORPHA:75857 |
Congenital Disorder Of Glycosylation, Type Iim |
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Epicanthus, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Rod-cone dystr... |
OMIM:300896 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Renal Tubular Acidosis Iii |
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Periodic paralysis |
OMIM:267200 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Mosaic Trisomy 1 |
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Cerebellar vermis hypoplasia, Congenital bilateral ptosis, Agenesis of corpus callosum, Lateral v... |
ORPHA:1692 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Decreased response to growth hormone stimulation test, Abnormal midbrain morphology, Aggressive b... |
ORPHA:293987 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Lower limb spasticity, Upslanted palpebral fissure, Abnormal pons morphology, Lateral ventricle d... |
OMIM:300868 |
Smith-Lemli-Opitz Syndrome |
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Cerebellar atrophy, Epicanthus, Diffuse cerebral atrophy, Aganglionic megacolon, Hyperactivity, A... |
OMIM:270400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Epicanthus, Optic nerve hypoplasia, Sparse eyebrow, Dysplastic corpus callosum, Optic atrophy, La... |
ORPHA:500150 |
Atypical Werner Syndrome |
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Abnormality of retinal pigmentation, Retinal degeneration, Aplasia/Hypoplasia of the eyebrow |
ORPHA:79474 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Optic disc pallor, Epicanthus, Aggressive behavior, Synophrys, Optic disc coloboma, Optic atrophy... |
OMIM:607872 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Retinal dystrophy |
OMIM:263520 |
Paget Disease Of Bone 2, Early-Onset |
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Paraparesis, Tetraparesis, Brain stem compression |
OMIM:602080 |
Friedreich Ataxia 2 |
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Impaired vibratory sensation, Incoordination, Abnormal medulla oblongata morphology, Ataxia, Babi... |
OMIM:601992 |
Tsh-Secreting Pituitary Adenoma |
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Enlarged pituitary gland, Elevated circulating growth hormone concentration, Tremor, Increased ci... |
ORPHA:91347 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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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 |