Phenotypes for disease #03647

7 entries on 1 page. Showing entries 1 - 7.
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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     
0000060396 Charcot-Marie-Tooth disease, axonal, type 2P (OMIM:614436) - - Familial, autosomal dominant - - - - - Daniel Trujillano 00080827
0000232933 Distal limb muscle weakness due to peripheral neuropathy - - Unknown - - - - - Andreas Laner 00307128
0000232934 Weakness of foot dorsiflexion and lowering since the 30th year of life, distally emphasized sensorimotor axonal PNP. FA: Brother of the father also PNP since 70th year, father died with 29 years without symptoms of PNP, daughter also affected (known since 28th year) - - Unknown - - - 30y - Andreas Laner 00307129
0000232935 Axonal degeneration/regeneration on nerve biops - - Unknown - - - - - Andreas Laner 00307130
0000232936 Distal sensory loss, Foot drop - - Unknown - - - - - Andreas Laner 00307131
0000232937 Hereditary polyneuropathy, sensorimotor primary axonal PNP (sensory > motor), father also affected 58y - Unknown - - - - - Andreas Laner 00307132
0000232942 Hereditary polyneuropathy - - Unknown - - - - - Andreas Laner 00307137
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