Disease #01969

Official abbreviation -
Name neuramidase deficiency (sialidosis, type II)
OMIM ID 256550
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene NEU1
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 at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00080799 - Trujillano et al., submitted unaffected heterozygous carrier parents - - - - - 0 - - neuramidase deficiency (sialidosis, type II) Sialidosis, type I (OMIM: 256550) NEU1 NEU1 2 1 Daniel Trujillano
Legend