Phenotypes for disease #00809 (CMT2O (Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O)), OMIM:614228)

5 entries on 1 page. Showing entries 1 - 5.
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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     
0000272308 muscle weakness (HP:0001324); distal amyotrophy (HP:0003693); motor delay (HP:0001270); lordosis (HP:0003307); no intellectual disability (-HP:0001249) - CMT 2O Familial, autosomal dominant 15y 15y ? motor delay (HP:0001270) - Xiangjun Chen 00377144
0000272309 distal amyotrophy (HP:0003693); muscle weakness (HP:0001324); motor delay (HP:0001270); pes cavus (HP:0001761); no intellectual disability (-HP:0001249) - CMT 2O Familial, autosomal dominant 14y 14y - - - Xiangjun Chen 00377145
0000291910 Demyelinating peripheral neuropathy (HP:0007108), Decreased nerve conduction velocity (HP:0000762) CMT - Familial, autosomal recessive 36y - 34y Demyelinating peripheral neuropathy (HP:0007108), Decreased nerve conduction velocity (HP:0000762) - Yvet den Hartog 00398815
0000291911 Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762) CMT - Unknown 63y - - - - Yvet den Hartog 00398816
0000306885 Sensory axonal neuropathy - - Familial, autosomal dominant - - - - - Andreas Laner 00415084
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