Phenotypes for disease #04201 (SCAR (ataxia, spinocerebellar, autosomal recessive))

57 entries on 1 page. Showing entries 1 - 57.
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AscendingPhenotype ID     
Phenotype details     
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Inheritance     
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Age/Onset     
Phenotype/Onset     
Protein     
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Individual ID     
0000053273 - - - Familial, autosomal dominant - - - - - Claire Guissart 00073163
0000053275 - - - Familial, autosomal recessive - - - - - Claire Guissart 00073156
0000053276 - - - Unknown - - - - - Claire Guissart 00073161
0000053277 - - - Unknown - - - - - Claire Guissart 00073160
0000053278 - - - Unknown - - - - - Claire Guissart 00073159
0000053279 - - - Unknown - - - - - Claire Guissart 00073149
0000053280 - - - Unknown - - - - - Claire Guissart 00073146
0000053285 - - - Unknown - - - - - Claire Guissart 00073162
0000141924 see paper; ..., gait instability, speech difficulties, gait and limb ataxia, dysarthria, horizontal nystagmus, cataract; EMG normal cerebellar ataxia - Familial, autosomal recessive - - - - - Johan den Dunnen 00179437
0000180245 see paper; ..., pure cerebellar ataxia, normal neurophysiological findings, no signs of cognitive impairment or autonomic dysfunction cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240090
0000180246 see paper; ..., pure cerebellar ataxia, normal neurophysiological findings, no signs of cognitive impairment or autonomic dysfunction cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240091
0000180247 see paper; ..., pure cerebellar ataxia, normal neurophysiological findings, no signs of cognitive impairment or autonomic dysfunction cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240092
0000180258 SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes pure cerebellar ataxia SCAR-8 Familial, autosomal recessive 32y - 22y - - Johan den Dunnen 00240104
0000180259 SARA score: 12; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy pure cerebellar ataxia SCAR-8 Familial, autosomal recessive 40y - 25y - - Johan den Dunnen 00240105
0000180260 SARA score: 5; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes; normal MEPS pure cerebellar ataxia SCAR-8 Familial, autosomal recessive 48y - 36y - - Johan den Dunnen 00240106
0000180261 SARA score: 18; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes pure cerebellar ataxia SCAR-8 Familial, autosomal recessive 62y - 27y - - Johan den Dunnen 00240107
0000180262 SARA score: 9; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes pure cerebellar ataxia SCAR-8 Familial, autosomal recessive 23y - 19y - - Johan den Dunnen 00240108
0000180263 SARA score: 18; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; no dysfunction lower motor neuron; Urge incontinence; MRI cerebellar atrophy; no peripheral neuropathy; MEOS abnormal lower limb cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 67y - 40y - - Johan den Dunnen 00240109
0000180264 SARA score: 25; cerebellar ataxia; no dysfunction upper motor neuron; dysfunction lower motor neuron; Slow saccades; MRI cerebellar atrophy cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 75y - 35y - - Johan den Dunnen 00240110
0000180265 SARA score: 15.5; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; no dysfunction lower motor neuron; mild macroglossia; esotropia; MRI cerebellar atrophy cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 46y - 28y - - Johan den Dunnen 00240111
0000180266 SARA score: 22; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower and upper limb; no dysfunction lower motor neuron; Urge incontinence; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes; MEOS abnormal upper and lower limb cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 39y - 21y - - Johan den Dunnen 00240112
0000180267 SARA score: 16.5; cerebellar ataxia; dysfunction upper motor neuron; dysfunction lower motor neuron; Strabism divergens, fasciculation face, fibrillation tongue, reduced vibration sense, depression, CK elevation; MRI cerebellar atrophy; no peripheral neuropathy; EMG chronic neurogenic; MEOS abnormal upper and lower limb cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 25y - 18y - - Johan den Dunnen 00240113
0000180268 SARA score: 33; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower and upper limb; dysfunction lower motor neuron; Respiratory distress, mental retardation, sacral cyst, malrotation colon, pseudarthrosis clavicula, 2 kidneys right sided, kyphosis, scoliosis, CK elevation, pes cavus, strabism, cataract, myoclonus; MRI cerebellar atrophy; no peripheral neuropathy; EMG acute neurogenic; MEOS abnormal lower limb cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 36y - 6y - - Johan den Dunnen 00240114
0000180269 SARA score: 33; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; dysfunction lower motor neuron; respiratory distress (BIPAP all day), mental retardation (IQ=60), hypertelorism, CK elevation, pes cavus, hyperlaxity, Achilles tendon contractures; MRI cerebellar atrophy; no peripheral neuropathy; EMG acute and chronic neurogenic cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 28y - 6y - - Johan den Dunnen 00240115
0000180270 SARA score: 14; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 42y - 30y - - Johan den Dunnen 00240116
0000180271 SARA score: 14; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 40y - 28y - - Johan den Dunnen 00240117
0000180272 SARA score: 8; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; dysfunction lower motor neuron; Pes cavus; MRI cerebellar atrophy; no peripheral neuropathy; MEOS abnormal upper and lower limb cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 29y - 15y - - Johan den Dunnen 00240118
0000180273 SARA score: 28; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; no dysfunction lower motor neuron; Slow saccade initiation, horizontal ophtalmoparesis, facial myokymia; MRI cerebellar atrophy cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 49y - 10y - - Johan den Dunnen 00240119
0000180274 SARA score: 24; cerebellar ataxia; no dysfunction upper motor neuron; dysfunction lower motor neuron (proximal); Reduced vibration sense, urge incontinence, bulging eyes, upper limb dystonia; MRI cerebellar atrophy cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 70y - 24y - - Johan den Dunnen 00240120
0000180275 SARA score: 20; cerebellar ataxia; dysfunction upper motor neuron; no dysfunction lower motor neuron; Urge incontinence; MRI cerebellar atrophy cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 50y - 16y - - Johan den Dunnen 00240121
0000180276 SARA score: 18; cerebellar ataxia; dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis, dysphagia; MRI cerebellar atrophy; peripheral neuropathy, mild sensory axonal, lower limb; EMG no changes; normal MEPS cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 65y - 20y - - Johan den Dunnen 00240122
0000180277 SARA score: 22; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; dysfunction lower motor neuron; cognitive deficit (IQ=49), slow saccades, CK elevation, restrictive ventilatory defect, pes cavus; MRI cerebellar atrophy; peripheral neuropathy, motor axonal; EMG chronic neurogenic; MEOS abnormal upper and lower limb cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 21y - 10y - - Johan den Dunnen 00240123
0000180278 SARA score: 14; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Slow vertical saccades; MRI cerebellar atrophy; no peripheral neuropathy cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 63y - 24y - - Johan den Dunnen 00240124
0000180279 SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 27y - 20y - - Johan den Dunnen 00240125
0000180280 SARA score: 22; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis, kyphosis; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 65y - 25y - - Johan den Dunnen 00240126
0000180281 SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Square wave jerks, horizontal ophtalmoparesis, mild microretrognathism, unilateral ptosis cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 43y - 27y - - Johan den Dunnen 00240127
0000180282 SARA score: 11; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis, seizures at age 2 year, square wave jerks cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 58y - 17y - - Johan den Dunnen 00240128
0000180283 SARA score: 21; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Pes cavus; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes cerebellar ataxia plus SCAR-8 Familial, autosomal recessive 32y - 7y - - Johan den Dunnen 00240129
0000180287 see paper; ... cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240133
0000180288 see paper; ... cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240134
0000180289 see paper; ... cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240135
0000180290 see paper; ... cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240136
0000180291 see paper; … cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240137
0000180292 see paper; … cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240138
0000180293 see paper; … cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240139
0000180294 see paper; … cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240141
0000180295 see paper; … cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240142
0000180296 see paper; … cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240143
0000180297 see paper; … cerebellar ataxia SCAR-8 Familial, autosomal recessive - - - - - Johan den Dunnen 00240144
0000210561 histology curvilinear spinocerebellar ataxia SCAR7 Familial, autosomal recessive - - 04y - - Johan den Dunnen 00206960
0000210562 gait, balance and neurocognitive abnormalities; common mutation described as p.(Phe169*) by Dy spinocerebellar ataxia SCAR7 Familial, autosomal recessive - 10y 04y - - Sara Mole 00206987
0000210563 normal muscle and skin biopsy complex hereditary spastic paraplegia SCAR7 Familial, autosomal recessive - - 11y - - Sara Mole 00206988
0000302838 see paper; ..., developmental delay, microcephaly, failure to thrive, difficulty keeping balance, ataxic gait, seizures/epilepsy, hypotonia, neutropenia, cardiac arrhythmia, fatigability spinocerebellar ataxia SCAR23 Familial, autosomal recessive 06y - <00y05m - - Johan den Dunnen 00410747
0000302839 see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (1-2/day), ataxia, wheelchair-bound, hypotonia, dysmorphic, brachycephaly spinocerebellar ataxia SCAR23 Familial, autosomal recessive 32y - <2m - - Johan den Dunnen 00410748
0000302840 see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (3-4/day), ataxia, wheelchair-bound, dysmorphic spinocerebellar ataxia SCAR23 Familial, autosomal recessive 26y - <12y - - Johan den Dunnen 00410749
0000302841 see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (2/day), ataxia, not wheelchair-bound, dysmorphic spinocerebellar ataxia SCAR23 Familial, autosomal recessive 23y - <6m - - Johan den Dunnen 00410750
0000302842 see paper; ..., intellectual disability, ataxia spinocerebellar ataxia SCAR23 Familial, autosomal recessive - - - - - Johan den Dunnen 00410751
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