Disease #02254 (CMTX5 (Charcot-Marie-Tooth disease, X-linked recessive, type 5 (CMTX-5)), OMIM:311070)

Official abbreviation CMTX5
Name Charcot-Marie-Tooth disease, X-linked recessive, type 5 (CMTX-5)
OMIM ID 311070
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 1 gene PRPS1
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00207340 - - - M no France - 35y - - - CMTX5 sensori-motor neuropathy since the age of 8 profound bilateral hearing loss bilateral optic neuropathy PRPS1 PRPS1 1 1 Justine Lerat
00266239 - Mercati et al 2019 submitted - M - - - - - - - CMTX5 - PRPS1 PRPS1 1 1 Laurence Jonard
00266240 - Mercati et al 2019 submitted - M no Turkey - - - - - CMTX5 hearing loss, epilepsy, peripheral neuropathy, severe IUGR - PRPS1 1 1 Laurence Jonard
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