Phenotypes for disease #05113 (CMT (Charcot-Marie-Tooth disease (CMT)))

884 entries on 9 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000043159 Charcot-Marie-Tooth disease (CMT) - - Familial, autosomal dominant - - - - - Johan den Dunnen 00056471
0000043160 slowly progressive weakness distal lower limbs - - Isolated (sporadic) - - 5y weakness distal lower limbs - Johan den Dunnen 00056472
0000050216 - - - Unknown - - - - - Johan den Dunnen 00063633
0000050218 - - - Unknown - - - - - Johan den Dunnen 00063635
0000050219 - - - Unknown - - - - - Johan den Dunnen 00063636
0000050227 - - - Unknown - - - - - Johan den Dunnen 00063644
0000050229 - - - Unknown - - - - - Johan den Dunnen 00063646
0000050230 - - - Unknown - - - - - Johan den Dunnen 00063647
0000050233 - - - Unknown - - - - - Johan den Dunnen 00063650
0000050239 - - - Unknown - - - - - Johan den Dunnen 00063656
0000050249 - - - Unknown - - - - - Johan den Dunnen 00063666
0000050252 - - - Unknown - - - - - Johan den Dunnen 00063669
0000050255 - - - Unknown - - - - - Johan den Dunnen 00063672
0000050259 - - - Unknown - - - - - Johan den Dunnen 00063676
0000050272 - - - Unknown - - - - - Johan den Dunnen 00063689
0000050278 - - - Unknown - - - - - Johan den Dunnen 00063695
0000050281 - - - Unknown - - - - - Johan den Dunnen 00063698
0000050289 - - - Unknown - - - - - Johan den Dunnen 00063706
0000050290 - - - Unknown - - - - - Johan den Dunnen 00063707
0000050291 - - - Unknown - - - - - Johan den Dunnen 00063708
0000050296 - - - Unknown - - - - - Johan den Dunnen 00063713
0000050307 - - - Unknown - - - - - Johan den Dunnen 00063724
0000050311 - - - Unknown - - - - - Johan den Dunnen 00063728
0000050316 - - - Unknown - - - - - Johan den Dunnen 00063733
0000050324 - - - Unknown - - - - - Johan den Dunnen 00063741
0000050326 - - - Unknown - - - - - Johan den Dunnen 00063743
0000050333 - - - Unknown - - - - - Johan den Dunnen 00063750
0000050338 - - - Unknown - - - - - Johan den Dunnen 00063755
0000050339 - - - Unknown - - - - - Johan den Dunnen 00063756
0000050347 - - - Unknown - - - - - Johan den Dunnen 00063764
0000050348 - - - Unknown - - - - - Johan den Dunnen 00063765
0000050349 - - - Unknown - - - - - Johan den Dunnen 00063766
0000050354 - - - Unknown - - - - - Johan den Dunnen 00063771
0000050355 - - - Unknown - - - - - Johan den Dunnen 00063772
0000050366 - - - Unknown - - - - - Johan den Dunnen 00063783
0000050369 - - - Unknown - - - - - Johan den Dunnen 00063786
0000052757 cutis verticis gyrata, disseminated collagenoma - - Unknown - - - - - Jean-Pierre Bayley 00073065
0000058646 - - - Familial, autosomal recessive - - - - - Alessandro Geroldi 00078888
0000058647 - - - Familial, autosomal recessive - - - - - Alessandro Geroldi 00078889
0000081602 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103671
0000081603 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103672
0000081604 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103673
0000081607 Charcot-Marie-Tooth disease, autosomal dominant - - Unknown - - - - - Johan den Dunnen 00103676
0000081609 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103678
0000081610 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103679
0000081613 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103682
0000081614 Charcot-Marie-Tooth disease, autosomal dominant - - Unknown - - - - - Johan den Dunnen 00103683
0000081618 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103687
0000081619 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103688
0000081620 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103689
0000081623 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103692
0000081625 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103694
0000081629 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103698
0000081630 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103699
0000081632 Charcot-Marie-Tooth disease, axonal - - Unknown - - - - - Johan den Dunnen 00103701
0000081633 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103702
0000081637 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103706
0000081639 Charcot-Marie-Tooth disease, autosomal dominant - - Unknown - - - - - Johan den Dunnen 00103708
0000081642 Charcot-Marie-Tooth disease, axonal - - Unknown - - - - - Johan den Dunnen 00103711
0000081646 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103715
0000081648 Charcot-Marie-Tooth disease 2C - - Unknown - - - - - Johan den Dunnen 00103717
0000081650 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103719
0000081651 Charcot-Marie-Tooth disease, autosomal recessive - - Unknown - - - - - Johan den Dunnen 00103720
0000093240 Dominant, axonal, peripheral neuropathy - - - - - - - - Heather McLaughlin 00117852
0000093241 Dominant, axonal, peripheral neuropathy - - - - - - - - Heather McLaughlin 00117853
0000093242 Dominant, axonal Charcot-Marie-Tooth disease - - - - - - - - Heather McLaughlin 00117854
0000117814 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145074
0000117815 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145075
0000117817 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145077
0000117818 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145078
0000117819 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145079
0000117820 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145080
0000117821 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145081
0000117823 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145083
0000117824 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145084
0000117825 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145085
0000117826 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145086
0000117827 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145087
0000117828 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145088
0000117829 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145089
0000117831 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145091
0000117832 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145092
0000117833 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145093
0000117834 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145094
0000117835 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145095
0000117836 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145096
0000117837 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145097
0000117838 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145098
0000117839 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145099
0000117840 - Charcot-Marie-Tooth disease (CMT) CMT-4C Unknown - - - - - Johan den Dunnen 00145100
0000124223 delayed walking, diagnosis infancy, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with decreased sensibility, no scoliosis, absent reflexes lower extremities/present upper Charcot-Marie-Tooth disease (CMT) CMT-4H Familial, autosomal recessive 30y - - - - Johan den Dunnen 00151860
0000124224 see paper; ... Charcot-Marie-Tooth disease (CMT) CMT-4H Familial, autosomal recessive - - - - - Johan den Dunnen 00151861
0000124225 early-onset demyelinating neuropathy Charcot-Marie-Tooth disease (CMT) CMT-4H Familial, autosomal recessive - - - - - Johan den Dunnen 00151862
0000124226 2y2m-walking, distal weakness marked in the lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities, myelin outfodings Charcot-Marie-Tooth disease (CMT) CMT-4H Familial, autosomal recessive 08y 02y - - - Johan den Dunnen 00151863
0000124227 1y4m-walking, distal weakness mild in lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities Charcot-Marie-Tooth disease (CMT) CMT-4H Familial, autosomal recessive 11y 09y - - - Johan den Dunnen 00151864
0000124228 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00151865
0000124229 1y-walking, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with absent sensibility, sever scoliosis, absent reflexes upper/lower extremities, myelin outfodings Charcot-Marie-Tooth disease CMT-4H Familial, autosomal recessive 13y 04y - - - Johan den Dunnen 00151866
0000124243 - Charcot-Marie-Tooth disease CMT-1C Familial, autosomal dominant - - - - - Johan den Dunnen 00151880
0000124244 - Charcot-Marie-Tooth disease CMT-1C Familial, autosomal dominant - - - - - Johan den Dunnen 00151881
0000124245 - Charcot-Marie-Tooth disease - Isolated (sporadic) - - - - - Johan den Dunnen 00151882
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