intellectual developmental disorder, autosomal recessive 74
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 74 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 APC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014951), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
- EEG with polyspike wave complexesHPOHP:0002392
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperactivityHPOHP:0000752
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
Show the remaining 4
- Prominent noseHPOHP:0000448
- 2 of 2 reported patients
- Relative macrocephalyHPOHP:0004482
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Wide nasal bridgeHPOHP:0000431
- 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.
- APC2HGNC:24036
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
3 names
Resolves to: intellectual developmental disorder, autosomal recessive 74
- Also called
- APC2 Sotos syndromeSotos syndrome caused by mutation in APC2Sotos syndrome type 3