Spinocerebellar Ataxia 41 |
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Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 30 |
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Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Autosomal Spastic Paraplegia Type 30 |
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Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia 45 |
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Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... |
ORPHA:284332 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
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Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
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Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Spinocerebellar Ataxia 40 |
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Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Spinocerebellar Ataxia Type 15/16 |
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Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Spinocerebellar Ataxia Type 31 |
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Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia 37 |
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Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia 31 |
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Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
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Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
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Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia 35 |
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Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia Type 23 |
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Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Lichtenstein-Knorr Syndrome |
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Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent... |
OMIM:608029 |
Spinocerebellar Ataxia 30 |
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Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Growt... |
OMIM:614322 |
Spinocerebellar Ataxia 11 |
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Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Spinocerebellar Ataxia Type 37 |
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Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 40 |
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Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Epilepsy, Progressive Myoclonic, 11 |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Spinocerebellar Ataxia Type 35 |
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Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
Urocanase Deficiency |
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Broad-based gait, Short stature, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinocerebellar Ataxia Type 12 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
Spastic Paraplegia 30, Autosomal Dominant |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
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Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
Spinocerebellar Ataxia 46 |
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Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
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Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A... |
OMIM:614831 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
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Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Spinocerebellar Ataxia Type 26 |
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Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Spinocerebellar Ataxia 4 |
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Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Spinocerebellar Ataxia 44 |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
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Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Spinocerebellar Ataxia 26 |
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Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Spinocerebellar Ataxia Type 29 |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Leukodystrophy, Hypomyelinating, 11 |
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Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Spinocerebellar Ataxia 5 |
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Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Spinocerebellar Ataxia Type 19/22 |
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Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Hypocalcemia, Autosomal Dominant 2 |
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Postnatal growth retardation, Paresthesia |
OMIM:615361 |
Spinocerebellar Ataxia 15 |
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Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Spinocerebellar Ataxia Type 8 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Polyendocrine-Polyneuropathy Syndrome |
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Postnatal growth retardation, Short stature, Cerebellar hypoplasia, Ataxia |
OMIM:616113 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
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Growth delay, Spastic paraparesis, Short stature, Delayed puberty |
OMIM:619234 |