glycosylphosphatidylinositol biosynthesis defect 17
MONDO:0060724Mondo
Findings
No curated finding names glycosylphosphatidylinositol biosynthesis defect 17 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
- Childhood onset
HPO, annotations 2026-09-02
Features
21 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.
- Aggressive behaviorHPOHP:0000718
- 2 of 2 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- Chronic otitis mediaHPOHP:0000389
- 1 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 2 reported patients
- Clinodactyly of the 5th toeHPOHP:0001864
- 1 of 2 reported patients
- Dry skinHPOHP:0000958
- 1 of 2 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 2 reported patients
- Generalized myoclonic seizureHPOHP:0002123
- 1 of 2 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
Show the remaining 9
- Nevus spilusHPOHP:0025510
- 1 of 2 reported patients
- OsteomyelitisHPOHP:0002754
- 1 of 2 reported patients
- OverfriendlinessHPOHP:0100025
- 1 of 2 reported patients
- Abnormality of alkaline phosphatase levelHPOHP:0004379
- 0 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- Growth delayHPOHP:0001510
- High palateHPOHP:0000218
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.
- PIGHHGNC:8964
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · ClinGen · Autosomal recessive · 2025