intellectual developmental disorder, autosomal recessive 82
MONDO:0968944Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 82 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
13 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Growth delayHPOHP:0001510
- 2 of 3 reported patients
- Motor delayHPOHP:0001270
- 2 of 3 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 2 reported patients
- AutismHPOHP:0000717
- 1 of 2 reported patients
- Sleep disturbanceHPOHP:0002360
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 3 reported patients
Show the remaining 1
- SeizureHPOHP:0001250
- 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.
- NSUN6HGNC:23529
- Strong · PanelApp Australia · Autosomal recessive · 2025