Disease #05404

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.
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00246132 - - - M yes Italy - 12y 0 - - EIEE-55;GPIBD-14 - - PIGP 1 4 Annalisa Vetro
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