Disease #05402

Official abbreviation HPMRS-6;GPIBD-12
Name hyperphosphatasia with mental retardation syndrome, type 6 (HPMRS-6, glycosylphosphatidylinositol deficiency, type 12 (GPIBD-12))
OMIM ID 616809
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene PIGY
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00155286 IV-2 PubMed: Nampoothiri 2017 - F yes Oman - - 0 - - DD, HPMRS-6;GPIBD-12 - - PGAP3 1 1 Philippe Campeau
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