Disease #02539 (HMSNR;CMT4G (neuropathy, hereditary motor and sensory, Russe type (CMT4G)), OMIM:605285)

Official abbreviation HMSNR;CMT4G
Name neuropathy, hereditary motor and sensory, Russe type (CMT4G)
OMIM ID 605285
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HK1
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-01-06 14:41:54 +01:00 (CET)


Individuals

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00219096 19536174-Fam PubMed: Hantke 2009 multi-generation family F;M yes Bulgaria gypsy (Kalderas) - - - - HMSNR;CMT4G see paper; ... HK1 HK1, HKDC1 3 1 Johan den Dunnen
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