neurodevelopmental disorder with language impairment and behavioral abnormalities
MONDO:0030060Mondo
Findings
No curated finding names neurodevelopmental disorder with language impairment and behavioral abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Global developmental delayHPOHP:0001263
- 28 of 28 reported patients
- Intellectual disabilityHPOHP:0001249
- 28 of 28 reported patients
- Autistic behaviorHPOHP:0000729
- 17 of 22 reported patients
- Absent speechHPOHP:0001344
- 14 of 25 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 11 of 25 reported patients
- Focal-onset seizureHPOHP:0007359
- 8 of 28 reported patients
- Cerebellar atrophyHPOHP:0001272
- 6 of 23 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 7 of 28 reported patients
- Inability to walkHPOHP:0002540
- 4 of 22 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 23 reported patients
- Progressive microcephalyHPOHP:0000253
- 4 of 28 reported patients · Infantile onset
- Clonic seizureHPOHP:0020221
- 3 of 28 reported patients
Show the remaining 12
- Compulsive behaviorsHPOHP:0000722
- 2 of 22 reported patients
- Motor stereotypyHPOHP:0000733
- 2 of 22 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 15 reported patients · Male
- ChoreaHPOHP:0002072
- 1 of 22 reported patients
- DystoniaHPOHP:0001332
- 1 of 22 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 22 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.
- GRIA2HGNC:4572
- Definitive · Ambry Genetics · Autosomal dominant · 2019
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: neurodevelopmental disorder with language impairment and behavioral abnormalities
- Also called
- GRIA2-related complex neurodevelopmental disorderNEDLIB