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Article

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

American journal of medical genetics. Part A - 1 Mar 2012

Thompson Miles D, Roscioli Tony, Marcelis Carlo, Nezarati Marjan M, Stolte-Dijkstra Irene, Sharom Frances J, Lu Peihua, Phillips John A, Sweeney Elizabeth, Robinson Peter N, Krawitz Peter, Yntema Helger G, Andrade Danielle M, Brunner Han G, Cole David E C

Abstract excerpt

Hyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by Mabry et al. [1970]. Although considered rare at the time, more than 20 individuals with the triad of developmental disability, seizures, and hyperphosphatasia have been identified world-wide. The 1-6 mannosyltransferase 2, phosphatidylinositol glycan V (PIGV) gene has been found to be disrupted in...

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Source

Identifiers

PMID: 22315194
DOI: 10.1002/ajmg.a.35202

Genes

PIGV
GPI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).PMID 22315194Read ↗

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Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

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