Disease #03647 (CMT-2P (Charcot-Marie-Tooth disease, type 2P (CMT-2P)), OMIM:614436)

Official abbreviation CMT-2P
Name Charcot-Marie-Tooth disease, type 2P (CMT-2P)
OMIM ID 614436
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene LRSAM1
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00080827 - Trujillano et al., submitted unaffected heterozygous carrier mother, father not available - - - - - 0 - - CMT-2P Charcot-Marie-Tooth disease, axonal, type 2P (OMIM:614436) LRSAM1 LRSAM1 1 1 Daniel Trujillano
00307128 - - submission for publication Reilich et al, 2020 (submitted) ? ? ? (unknown) - - 0 - - CMT-2P Distal limb muscle weakness due to peripheral neuropathy LRSAM1 LRSAM1 1 1 Andreas Laner
00307129 105556 - submission for publication Reilich et al, 2020 (submitted) F ? ? (unknown) - - 0 - - CMT-2P 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) LRSAM1 LRSAM1 1 1 Andreas Laner
00307130 - - submission for publication Reilich et al, 2020 (submitted) ? ? ? (unknown) - - 0 - - CMT-2P Axonal degeneration/regeneration on nerve biops LRSAM1 LRSAM1 1 1 Andreas Laner
00307131 - - submission for publication Reilich et al, 2020 (submitted) ? ? ? (unknown) - - 0 - - CMT-2P Distal sensory loss, Foot drop LRSAM1 LRSAM1 1 1 Andreas Laner
00307132 140851 submission for publication Reilich et al, 2020 (submitted) - M ? Germany - - 0 - - CMT-2P Hereditary polyneuropathy, sensorimotor primary axonal PNP (sensory > motor), father also affected LRSAM1 LRSAM1 1 1 Andreas Laner
00307137 - submission for publication Reilich et al, 2020 (submitted) - ? ? ? (unknown) - - 0 - - CMT-2P Hereditary polyneuropathy LRSAM1 LRSAM1 1 1 Andreas Laner
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