intellectual developmental disorder, autosomal recessive 81
MONDO:0958204Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 81 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
54 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.
- Delayed gross motor developmentHPOHP:0002194
- 3 of 3 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 7 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 4 reported patients
- MyopiaHPOHP:0000545
- 6 of 9 reported patients
- SeizureHPOHP:0001250
- 6 of 9 reported patients
- Axial hypotoniaHPOHP:0008936
- 5 of 10 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 4 of 8 reported patients
- Thick eyebrowHPOHP:0000574
- 5 of 11 reported patients
- AutismHPOHP:0000717
- 2 of 5 reported patients
- Obsessive-compulsive traitHPOHP:0008770
- 4 of 10 reported patients
- Mandibular prognathiaHPOHP:0000303
- 4 of 11 reported patients
Show the remaining 42
- Appendicular hypotoniaHPOHP:0012389
- 3 of 9 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 6 reported patients
- MacrodontiaHPOHP:0001572
- 3 of 9 reported patients
- AnxietyHPOHP:0000739
- 2 of 9 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 9 reported patients
- ConstipationHPOHP:0002019
- 2 of 9 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.
- ASCC3HGNC:18697
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2025