Disease #02557 (CMT2B2 (Charcot-Marie-Tooth disease, axonal, type 2B2), OMIM:605589)

Official abbreviation CMT2B2
Name Charcot-Marie-Tooth disease, axonal, type 2B2
OMIM ID 605589
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PNKP
Associated tissues -
Disease features onset adulthood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), distal muscle weakness (HP:0002460), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), no cognitive impairment (-HP:0100543), no dystonia (-HP:0001332)
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-09-10 21:15:06 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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     
00029693 - PubMed: Leal 2009, Journal: Leal 2009 12-generation family, >20 affecteds, unaffected carriers - yes Costa Rica Spanish, Amerindian - - - - CMT2B2 see paper MED25, NR1H2 MED25, NR1H2 2 20 Johan den Dunnen
00398776 608 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing F - Italy - >53y - - - CMT2B2 Peripheral neuropathy (HP:0009830), no decreased nerve conduction velocity (-HP:0000762) MED25 MED25 1 1 Yvet den Hartog
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.