glycosylphosphatidylinositol biosynthesis defect 18
MONDO:0029140Mondo
Findings
No curated finding names glycosylphosphatidylinositol biosynthesis defect 18 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
62 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.
- Absent speechHPOHP:0001344
- 6 of 6 reported patients
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 6 of 6 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 4 reported patients
- EEG with burst suppressionHPOHP:0010851
- 6 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 4 reported patients
- Gait disturbanceHPOHP:0001288
- 4 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Highly arched eyebrowHPOHP:0002553
- 4 of 4 reported patients
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- MacroglossiaHPOHP:0000158
- 4 of 4 reported patients
Show the remaining 50
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- 6 of 6 reported patients · Infantile onset
- Severe global developmental delayHPOHP:0011344
- 6 of 6 reported patients
- Thickened helicesHPOHP:0000391
- 4 of 4 reported patients
- Coarse facial featuresHPOHP:0000280
- 9 of 10 reported patients
- Status epilepticusHPOHP:0002133
- 5 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 10 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.
- PIGSHGNC:14937
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: glycosylphosphatidylinositol biosynthesis defect 18
- Also called
- developmental and epileptic encephalopathy 95