Disease #01654 (ALS2 (sclerosis, lateral, amyotrophic, type type 2 (ALS2)), OMIM:205100)

Official abbreviation ALS2
Name sclerosis, lateral, amyotrophic, type type 2 (ALS2)
OMIM ID 205100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene ALS2
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

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     
00484548 family - 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/male sibling F yes Pakistan Asia-S - - - - ALS2 marked intellectual disability, cognitive impairment, mild microcephaly, and spasticity of both upper and lower limbs; language impairment, delayed milestones, bilateral foot drop, dysarthria, swallowing difficulties - ALS2 1 2 Atta Ur Rehman
00484555 family - sister F yes Pakistan Asia-S - - - - ALS2 - - ALS2 1 1 Atta Ur Rehman
Legend   How to query  

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.