intellectual disability, autosomal recessive 50
Findings
No curated finding names intellectual disability, autosomal recessive 50 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014649), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
4 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.
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- Heterochromia iridisHPOHP:0001100
- 1 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 2 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.
- EDC3HGNC:26114
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, autosomal recessive 50
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3EDC3 autosomal recessive non-syndromic intellectual disabilityintellectual developmental disorder, autosomal recessive 50intellectual disability, autosomal recessive type 50mental retardation, autosomal recessive type 50