intellectual disability, autosomal recessive 64
MONDO:0020846Mondo
Findings
No curated finding names intellectual disability, autosomal recessive 64 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
12 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.
- Aggressive behaviorHPOHP:0000718
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Reduced social responsivenessHPOHP:0012760
- 5 of 5 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 5 reported patients
- Absent speechHPOHP:0001344
- 3 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 5 reported patients
- HypertoniaHPOHP:0001276
- 2 of 5 reported patients
- Slurred speechHPOHP:0001350
- 2 of 5 reported patients
- SpasticityHPOHP:0001257
- 2 of 5 reported patients
- SeizureHPOHP:0001250
- 1 of 5 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.
- LINGO1HGNC:21205
- Strong · G2P · Autosomal recessive · 2019
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
2 names
Resolves to: intellectual disability, autosomal recessive 64
- Also called
- MENTAL RETARDATION, autosomal recessive 64MRT64