intellectual disability, FRA12A type
MONDO:0007634Mondo
Findings
No curated finding names intellectual disability, FRA12A type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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
- 2 of 8 reported patients
- Atypical behaviorHPOHP:0000708
- 1 of 8 reported patients
- ErythrodermaHPOHP:0001019
- 1 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 8 reported patients
- HyperkeratosisHPOHP:0000962
- 1 of 8 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 8 reported patients
- SeizureHPOHP:0001250
- 1 of 8 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.
- DIP2BHGNC:29284
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · G2P · Autosomal dominant · 2015
- No Known Disease Relationship · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
- A kind of