Disease #05404 (EIEE-55;GPIBD-14 (encephalopathy, epileptic, early infantile, type 55 (EIEE-55, glycosylphosphatidylinositol deficiency, type 14 (GPIBD-14))), OMIM:617599)

Official abbreviation EIEE-55;GPIBD-14
Name encephalopathy, epileptic, early infantile, type 55 (EIEE-55, glycosylphosphatidylinositol deficiency, type 14 (GPIBD-14))
OMIM ID 617599
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene PIGP
Associated tissues -
Disease features autosomal recessive
Remarks -


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     
00246132 - - - M yes Italy - 12y 0 - - EIEE-55;GPIBD-14 - - PIGP 1 4 Annalisa Vetro
Legend   How to query