Disease #02214

Official abbreviation SMAX-2
Name atrophy, muscular, spinal, X-linked, type 2, infantile (SMAX-2, arthrogryposis multiplex congenita, distal, X-linked)
OMIM ID 301830
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene UBA1
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00173709 - - - - ? - - - 0 - - SMAX-2 - - UBA1 1 1 Alfons Meindl
Legend