intellectual developmental disorder, autosomal recessive 76
MONDO:0030968Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 76 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
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
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Delayed fine motor developmentHPOHP:0010862
- 1 of 1 reported patient
- ExodeviationHPOHP:0020049
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Interictal epileptiform activityHPOHP:0011182
- 1 of 1 reported patient
- Precocious puberty in femalesHPOHP:0010465
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient · Infantile onset
- Self-injurious behaviorHPOHP:0100716
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Sleep disturbanceHPOHP:0002360
- 1 of 1 reported patient
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.
- GRIA1HGNC:4571
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: intellectual developmental disorder, autosomal recessive 76
- Also called
- mental retardation, autosomal recessive 76MRT76