intellectual disability, autosomal recessive 54
Findings
No curated finding names intellectual disability, autosomal recessive 54 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 TNIK gene.
Definition from the Mondo Disease Ontology (MONDO:0014876), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
5 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.
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 reported patients
- Emotional labilityHPOHP:0000712
- 1 of 4 reported patients
- Exaggerated startle responseHPOHP:0002267
- 1 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
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.
- TNIKHGNC:30765
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Illumina · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal recessive 54
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in TNIKintellectual developmental disorder 54intellectual disability, autosomal recessive type 54mental retardation, autosomal recessive 54mental retardation, autosomal recessive type 54MRT54TNIK autosomal recessive non-syndromic intellectual disability