syndromic X-linked intellectual disability Snyder type
Findings
No curated finding names syndromic X-linked intellectual disability Snyder type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.
Definition from the Mondo Disease Ontology (MONDO:0010664), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
78 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- BrachycephalyHPOHP:0000248
- 2 of 2 reported patients
- Very rare (1% to 4% of cases)
- Bulbous noseHPOHP:0000414
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Dental crowdingHPOHP:0000678
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Facial asymmetryHPOHP:0000324
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
Show the remaining 66
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- Smooth philtrumHPOHP:0000319
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Sparse eyebrowHPOHP:0045075
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- SynophrysHPOHP:0000664
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Thick lower lip vermilionHPOHP:0000179
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.
- SMSHGNC:11123
- Definitive · ClinGen · X-linked · 2018
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Strong · G2P · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: syndromic X-linked intellectual disability Snyder type
- Also called
- intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessiveintellectual disability, X-linked, Snyder-Robinson typeSnyder-Robinson intellectual disability syndromeSnyder-Robinson mental retardation syndromeSnyder-Robinson SyndromeSRS