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intellectual developmental disorder, autosomal recessive 74 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 74

MONDO:0014951

Also known as:APC2 Sotos syndromeSOTOS3Sotos syndrome 3

Overview

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.

GeneticsAutosomal recessive · APC2 (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Poor speech, Delayed speech and language development, Narrow palate, and Wide nasal bridge and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Poor speech, Delayed speech and language development, Seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

APC2 encodes APC regulator of Wnt signaling pathway 2 (2,303 aa). Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases. May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 Highest expression in Brain Cerebellum (74.3 TPM) and Brain Cerebellar Hemisphere (60.8 TPM).

Intellectual developmental disorder, autosomal recessive 74 is associated with mutations in the APC2 gene on chromosome 19.

APC2 is classified as a druggable target with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for APC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal recessive 74 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 16 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 74.

24 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 74. Research spans Case Report / Case Series (46%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	11	46%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617169

GARD

Genetic and Rare Diseases Info Center

GARD:16208

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

intellectual developmental disorder, autosomal recessive 74

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual developmental disorder, autosomal recessive 74

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications