glycosylphosphatidylinositol biosynthesis defect 21
MONDO:0032824Mondo
Findings
No curated finding names glycosylphosphatidylinositol biosynthesis defect 21 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
49 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.
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Malar flatteningHPOHP:0000272
- 5 of 5 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 5 of 5 reported patients
- Smooth philtrumHPOHP:0000319
- 5 of 5 reported patients
- StrabismusHPOHP:0000486
- 5 of 5 reported patients
- Profound global developmental delayHPOHP:0012736
- 4 of 5 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 4 of 5 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 3 of 5 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 3 of 5 reported patients
- High foreheadHPOHP:0000348
- 3 of 5 reported patients
Show the remaining 37
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 5 reported patients
- Long faceHPOHP:0000276
- 3 of 5 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 3 of 5 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 5 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 2 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 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.
- PIGUHGNC:15791
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Illumina · Autosomal dominant · 2019
Where it sits
- A kind of