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GTR Home > Conditions/Phenotypes > Glycosylphosphatidylinositol biosynthesis defect 25

Glycosylphosphatidylinositol biosynthesis defect 25

Synonyms
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CONTRACTURES

Summary

Glycosylphosphatidylinositol biosynthesis defect-25 (GPIBD25) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, brain anomalies, hypotonia, and contractures (Salian et al., 2022). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: GPIBD25, C18orf32
    Summary: chromosome 18 open reading frame 32

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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