Simpson-Golabi-Behmel syndrome type 1
Findings
No curated finding names Simpson-Golabi-Behmel syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0020602), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
56 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.
- Anal atresiaHPOHP:0002023
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Facial hypotoniaHPOHP:0000297
- 1 of 1 reported patient
- Gingival overgrowthHPOHP:0000212
Show the remaining 44
- PolyhydramniosHPOHP:0001561
- 2 of 2 reported patients · Fetal onset
- Postauricular pitHPOHP:0004464
- 1 of 1 reported patient
- Pulmonic stenosisHPOHP:0001642
- 1 of 1 reported patient
- Short fingerHPOHP:0009381
- 1 of 1 reported patient
- Short nailHPOHP:0001799
- 1 of 1 reported patient
- Total anomalous pulmonary venous returnHPOHP:0005160
- 1 of 1 reported patient
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.
- GPC3HGNC:4451
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
6 names
Resolves to: Simpson-Golabi-Behmel syndrome type 1
- Also called
- bulldog syndromeGPC3 Simpson-Golabi-Behmel syndromeSGBS1Simpson dysmorphia syndromeSimpson-Golabi-Behmel syndrome caused by mutation in GPC3Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive