X-linked intellectual disability-short stature-overweight syndrome
Findings
No curated finding names X-linked intellectual disability-short stature-overweight syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.
Definition from the Mondo Disease Ontology (MONDO:0010496), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
55 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.
- Intellectual disabilityHPOHP:0001249
- 37 of 38 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 31 of 38 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 22 of 36 reported patients
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- 15 of 38 reported patients
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
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.
- THOC2HGNC:19073
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Strong · G2P · X-linked · 2016
- Moderate · Ambry Genetics · X-linked · 2018
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: X-linked intellectual disability-short stature-overweight syndrome
- Also called
- intellectual developmental disorder, X-linked 12, X-linked recessiveintellectual disability, X-linked type 12mental retardation, X-linked type 12