intellectual disability, autosomal recessive 27
Findings
No curated finding names intellectual disability, autosomal recessive 27 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 LINS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013702), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
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.
- LINS1HGNC:30922
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2010
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, autosomal recessive 27
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1intellectual developmental disorder, autosomal recessive 27intellectual disability, autosomal recessive type 27LINS1 autosomal recessive non-syndromic intellectual disabilitymental retardation, autosomal recessive type 27