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intellectual developmental disorder, autosomal recessive 78 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 78

MONDO:0859373

Overview

GeneticsAutosomal recessive · WDR11 (chr 10)

ResearchLimited published research (4 articles)

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: Microcephaly; and very common findings: Mild intellectual disability. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Mild intellectual disability, Febrile seizure (within the age range of 3 months to 6 years), Severe intellectual disability

Genetic Landscape

WDR11 function has not been fully characterized.

Intellectual developmental disorder, autosomal recessive 78 is associated with mutations in the WDR11 gene on chromosome 10.

Diagnosis

Genetic testing for WDR11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common 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 78.

4 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 78. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

Kido J (2026). [PMID: 42150437](https://pubmed.ncbi.nlm.nih.gov/42150437/). *Mol Genet Metab*. [Case Report / Case Series]
Dilanthi HW (2025). [PMID: 39839200](https://pubmed.ncbi.nlm.nih.gov/39839200/). *JIMD Rep*. [Epidemiology / Natural History]
Alsahlawi Z (2025). [PMID: 39925523](https://pubmed.ncbi.nlm.nih.gov/39925523/). *Cureus*. [Case Report / Case Series]
Kałużna M (2024). [PMID: 39010903](https://pubmed.ncbi.nlm.nih.gov/39010903/). *Front Endocrinol (Lausanne)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 12:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620237

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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intellectual developmental disorder, autosomal recessive 78

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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