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intellectual developmental disorder, autosomal recessive 77 (MRT77) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 77

MONDO:0031031

Also known as:MRT77

Overview

GeneticsAutosomal recessive · CEP104 (chr 1)

ResearchLimited published research (1 article)

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: Nystagmus, Global developmental delay, Unsteady gait, and Intellectual disability and others; and sometimes findings: Poor wound healing, Joint hypermobility, and Self-biting.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Global developmental delay, Unsteady gait, Intellectual disability

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.

CEP104 encodes centrosomal protein 104 (925 aa). Required for ciliogenesis and for structural integrity at the ciliary tip Highest expression in Artery Tibial (20.4 TPM) and Testis (19.9 TPM).

Intellectual developmental disorder, autosomal recessive 77 is associated with mutations in the CEP104 gene on chromosome 1.

CEP104 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CEP104 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 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 77.

1 publication has been identified in PubMed for intellectual developmental disorder, autosomal recessive 77. Research spans Basic Science / Preclinical (100%).

Recent Publications

Harripaul R (2026). [PMID: 41865132](https://pubmed.ncbi.nlm.nih.gov/41865132/). *Sci Rep*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619988

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 77

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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