Disease #00370

Official abbreviation CMT-4C
Name Charcot-Marie-Tooth disease, type 4C (CMT-4C)
OMIM ID 601596
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SH3TC2
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00207578 - - - F no France - 29y 0 - - CMT-4C sensori-motor demyelinating neuropathy in the lower limbs, scoliosis SH3TC2 SH3TC2 1 1 Justine Lerat
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