Disease #00541 (HPMRS1;GPIBD2 (hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2))), OMIM:239300)
Official abbreviation |
HPMRS1;GPIBD2 |
Name |
hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2)) |
OMIM ID |
239300 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
32 |
Phenotype entries for this disease |
11 |
Associated with 1 gene |
PIGV |
Associated tissues |
- |
Disease features |
autosomal recessive |
Remarks |
- |
Individuals
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