Disease

hyperphosphatasia with impaired intellectual development syndrome 4

Definition

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.

Synonyms

glycosylphosphatidylinositol biosynthesis defect 62
GPIBD62

Cross References

MIM:615716

Parent Terms

hyperphosphatasia with impaired intellectual development syndrome

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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