Simpson-Golabi-Behmel syndrome type 2
Findings
No curated finding names Simpson-Golabi-Behmel syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.
Definition from the Mondo Disease Ontology (MONDO:0010265), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- Short fingerHPOHP:0009381
- 2 of 3 reported patients
- Broad thumbHPOHP:0011304
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- High palateHPOHP:0000218
- 1 of 3 reported patients
- HypotoniaHPOHP:0001252
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.
- OFD1HGNC:2567
- Limited · G2P · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: Simpson-Golabi-Behmel syndrome type 2
- Also called
- lethal variant of Simpson-Golabi-Behmel syndromeOFD1 Simpson-Golabi-Behmel syndromeSGBS2Simpson-Golabi-Behmel syndrome caused by mutation in OFD1Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive