Phenotypes for disease #00414

51 entries on 1 page. Showing entries 1 - 51.
Legend  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000016244 - - - Familial - - - - - Johan den Dunnen 00017890
0000017498 early-onset atypical Parkinsonism, no history of neurological diseases in pre-vious generations - - Familial, autosomal recessive - - - - - Johan den Dunnen 00001237
0000020233 - - - Unknown - - - - - Marialuisa Quadri 00018548
0000020322 - - - Unknown - - - - - Marialuisa Quadri 00018547
0000020323 - - - Unknown - - - - - Marialuisa Quadri 00018545
0000020324 - - - Unknown - - - - - Marialuisa Quadri 00018546
0000020325 - - - Unknown - - - - - Marialuisa Quadri 00018549
0000020326 - - - Unknown - - - - - Marialuisa Quadri 00018550
0000043862 - - - Unknown - - - - - Zafar Iqbal 00057182
0000043863 - - - Unknown - - - - - Zafar Iqbal 00057183
0000043864 - - - Unknown - - - - - Zafar Iqbal 00057184
0000043865 - - - Unknown - - - - - Zafar Iqbal 00057185
0000043866 - - - Unknown - - - - - Zafar Iqbal 00057186
0000043867 - - - Unknown - - - - - Zafar Iqbal 00057187
0000043868 - - - Unknown - - - - - Zafar Iqbal 00057188
0000043869 - - - Unknown - - - - - Zafar Iqbal 00057189
0000043870 - - - Unknown - - - - - Zafar Iqbal 00057190
0000043871 - - - Unknown - - - - - Zafar Iqbal 00057191
0000043872 - - - Unknown - - - - - Zafar Iqbal 00057192
0000043873 - - - Unknown - - - - - Zafar Iqbal 00057193
0000043874 - - - Unknown - - - - - Zafar Iqbal 00057194
0000043875 - - - Unknown - - - - - Zafar Iqbal 00057195
0000043876 - - - Unknown - - - - - Zafar Iqbal 00057196
0000043877 - - - Unknown - - - - - Zafar Iqbal 00057197
0000043878 - - - Unknown - - - - - Zafar Iqbal 00057198
0000043879 - - - Unknown - - - - - Zafar Iqbal 00057199
0000043880 - - - Unknown - - - - - Zafar Iqbal 00057200
0000043881 - - - Unknown - - - - - Zafar Iqbal 00057201
0000043882 - - - Unknown - - - - - Zafar Iqbal 00057202
0000043883 - - - Unknown - - - - - Zafar Iqbal 00057203
0000043884 - - - Unknown - - - - - Zafar Iqbal 00057204
0000043885 - - - Unknown - - - - - Zafar Iqbal 00057205
0000043886 - - - Unknown - - - - - Zafar Iqbal 00057206
0000043887 - - - Unknown - - - - - Zafar Iqbal 00057207
0000043888 - - - Unknown - - - - - Zafar Iqbal 00057208
0000043889 - - - Unknown - - - - - Zafar Iqbal 00057209
0000043890 - - - Unknown - - - - - Zafar Iqbal 00057210
0000043891 - - - Unknown - - - - - Zafar Iqbal 00057211
0000043892 - - - Unknown - - - - - Zafar Iqbal 00057212
0000043893 - - - Unknown - - - - - Zafar Iqbal 00057213
0000043894 - - - Unknown - - - - - Zafar Iqbal 00057214
0000043895 - - - Unknown - - - - - Zafar Iqbal 00057215
0000043896 - - - Unknown - - - - - Zafar Iqbal 00057216
0000061022 depression (HP:0000716), asymmetric akinetic rigid syndrome, no dystonia (-HP:0007325), no dyskinesia (-HP:0100660), early mental deterioration (HP:0001268), spatial disorientation (HP:0001289), slurred speech (HP:0001350), hallucinations (HP:0000738), dysautonomia (HP:0002459), urinary incontinence (HP:0000020), loss of speech (HP:0002371), Apathy (HP:0000741), Dysphagia (HP:0002015), Cachexia (HP:0004326), hyperactive deep tendon reflexes (HP:0006801), no pyramidal syndrome (-HP:0002071), asymmetric atrophy in frontal, parietal and temporal areas at expense of left side (HP:0002283) - - Familial, autosomal recessive 54y - <46y - - Pieter Klap 00065163
0000061023 asymetric akineto rigid syndrome, Resting tremor (HP:0002322), limb dystonia (HP:0002451), dyskinesia (HP:0100660), mental deterioration (HP:0001268), dysautonomia (HP:0002459), pyramidal syndrome (HP:0002071), limb atrophy (HP:0007126); death due to aspiration pneumonia (HP:0011951) - - Familial, autosomal recessive - 33y - - - Pieter Klap 00065167
0000061024 asymetric akineto rigid syndrome, limb dystonia (HP:0002451), no dyskinesia (HP:0100660), mental deterioration (HP:0001268), slurred speech (HP:0001350), spastic tetraplegia (HP:0002510), normal MRI - - Familial, autosomal recessive 25y - 25y - - Pieter Klap 00065171
0000082499 see paper; ... - - Familial, autosomal dominant - - - - - Johan den Dunnen 00104581
0000082500 see paper; ... - - Familial, autosomal dominant - - - - - Johan den Dunnen 00104582
0000082501 see paper; ... - - Familial, autosomal dominant - - - - - Johan den Dunnen 00104583
0000082502 see paper; ..., mixed from prominent parkinsonism (with or without dopamine responsiveness and with little or no cerebellar findings) to less predominate cerebellar findings, with less parkinsonism - - Familial, autosomal dominant - - - - - Johan den Dunnen 00104584
0000158626 - - - Unknown - 30y - - - Nirmal Vadgama 00210052
Legend