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glycosylphosphatidylinositol biosynthesis defect 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycosylphosphatidylinositol biosynthesis defect 16

MONDO:0040500

Also known as:GPIBD16intellectual disability, autosomal recessive 62mental retardation, autosomal recessive 62

Overview

GeneticsAutosomal recessive · PIGC (chr 1)

OnsetINFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Poor speech, Delayed ability to walk, Seizure, and Global developmental delay and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Poor speech, Seizure, Global developmental delay

Genetic Landscape

PIGC function has not been fully characterized.

Glycosylphosphatidylinositol biosynthesis defect 16 has limited evidence linking it to mutations in the PIGC gene on chromosome 1.

Diagnosis

Genetic testing for PIGC is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for glycosylphosphatidylinositol biosynthesis defect 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for glycosylphosphatidylinositol biosynthesis defect 16.

11 publications have been identified in PubMed for glycosylphosphatidylinositol biosynthesis defect 16. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617816

GARD

Genetic and Rare Diseases Info Center

GARD:22577

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

glycosylphosphatidylinositol biosynthesis defect 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

glycosylphosphatidylinositol biosynthesis defect 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications