RSPRY1
HGNC:29420 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
0Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in RSPRY1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| skeletal dysplasia | — | 1 | 1 |
Linked variants
Variants normalized to RSPRY1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
Supporting publications
1 records- 2015Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.American journal of human geneticsPubMed ↗