Disease #02845 (CMT4H (Charcot-Marie-Tooth disease, type 4H (CMT-4H)), OMIM:609311)

Official abbreviation CMT4H
Name Charcot-Marie-Tooth disease, type 4H (CMT-4H)
OMIM ID 609311
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 FGD4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00404077 - - - F - Egypt - - - - - CMT4H 54-y women with progressive weakness and wasting of both upper and lower limbs, trophic changes, stocking and glove hypesthesia, deep sensory loss and pes cavus. Nerve conduction velocity study showed demyelinating neuropathy. FGD4 FGD4 1 3 Sherifa Ahmed Hamed
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.