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Article

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

BMC medical genetics - 2 Nov 2017

Thiffault Isabelle, Zuccarelli Britton, Welsh Holly, Yuan Xuan, Farrow Emily, Zellmer Lee, Miller Neil, Soden Sarah, Abdelmoity Ahmed, Brodsky Robert A, Saunders Carol

Abstract excerpt

BACKGROUND: Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes including multiple congenital anomalies, dysmorphic faces, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGN, encoding phosphatidylinositol-glycan biosynthesis class N...

Topics

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Abnormalities, Multiple
Child, Preschool
Developmental Disabilities
DNA Mutational Analysis
Epilepsies, Partial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Hypotonia

Phosphotransferases

Source

Open in PubMed Open full text

Identifiers

PMID: 29096607
DOI: 10.1186/s12881-017-0481-9
PMCID: PMC5668960

Genes

PIGN
GPI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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