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Metadata
ID DOID:0070436
Name 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.
https://pubmed.ncbi.nlm.nih.gov/24439110/
Xrefs

MIM:615716

Synonyms

glycosylphosphatidylinositol biosynthesis defect 62 [EXACT]

GPIBD62 [EXACT]

HPMRS6 [EXACT]

hyperphosphatasia with mental retardation syndrome 6 [EXACT]

Parent Relationships

is_a hyperphosphatasia with impaired intellectual development syndrome

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