hyperphosphatasia-intellectual disability syndrome

Findings

No curated finding names hyperphosphatasia-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• congenital limb malformation
• developmental anomaly of metabolic origin
• inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• syndromic dyslipidemia

Narrower terms (6)

• hyperphosphatasia with intellectual disability syndrome 1
• hyperphosphatasia with intellectual disability syndrome 2
• hyperphosphatasia with intellectual disability syndrome 3
• hyperphosphatasia with intellectual disability syndrome 4
• hyperphosphatasia with intellectual disability syndrome 5
• hyperphosphatasia with intellectual disability syndrome 6

Resolves to: hyperphosphatasia-intellectual disability syndrome

Also called

HPMRhyperphosphatasia with intellectual disability syndromehyperphosphatasia with mental retardation syndromeMabry syndrome