glycosylphosphatidylinositol biosynthesis defect 16
MONDO:0040500Mondo
Findings
No curated finding names glycosylphosphatidylinositol biosynthesis defect 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Poor speechHPOHP:0002465
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients · Infantile onset
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 0 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIGCHGNC:8960
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018