intellectual disability, autosomal recessive 60
MONDO:0044313Mondo
Findings
No curated finding names intellectual disability, autosomal recessive 60 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
- Infantile onset
HPO, annotations 2026-09-02
Features
8 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 pubertyHPOHP:0000823
- 3 of 3 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Small for gestational ageHPOHP:0001518
- 4 of 4 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- Short statureHPOHP:0004322
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.
- TAF13HGNC:11546
- Strong · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018