intellectual disability, autosomal recessive 61
Findings
No curated finding names intellectual disability, autosomal recessive 61 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.
Definition from the Mondo Disease Ontology (MONDO:0030915), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
40 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.
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients · Congenital onset
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 3 reported patients
- High palateHPOHP:0000218
- 2 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 3 reported patients
- Infantile spasmsHPOHP:0012469
- 2 of 3 reported patients
- Long faceHPOHP:0000276
Show the remaining 28
- Babinski signHPOHP:0003487
- 1 of 3 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 3 reported patients
- ClonusHPOHP:0002169
- 1 of 3 reported patients
- Conical toothHPOHP:0000698
- 1 of 3 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 3 reported patients
- DysmetriaHPOHP:0001310
- 1 of 3 reported patients
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.
- RUSC2HGNC:23625
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Illumina · Autosomal recessive · 2021