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intellectual developmental disorder, autosomal recessive 71 (MRT71) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 71

MONDO:0032789

Also known as:MRT71Mental Retardation, Autosomal Recessive 71

Overview

GeneticsAutosomal recessive · ALKBH8 (chr 11)

OnsetCONGENITAL

ResearchLimited published research (6 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: Global developmental delay and Intellectual disability; and very common findings: Seizure. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Global developmental delay, 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.

ALKBH8 encodes alkB homolog 8, tRNA methyltransferase (664 aa). Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain. Highest expression in Cells Cultured fibroblasts (8.8 TPM) and Nerve Tibial (7.5 TPM).

Intellectual developmental disorder, autosomal recessive 71 is associated with mutations in the ALKBH8 gene on chromosome 11.

ALKBH8 is classified as a druggable target (Enzyme category) 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 ALKBH8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal recessive 71 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

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 71.

6 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 71. Research spans Case Report / Case Series (33%), Diagnostic / Biomarker (17%), and Clinical Trial Publication (17%).

Recent Publications

Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clin Genet*. [Epidemiology / Natural History]
Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatr Neurol*. [Clinical Trial Publication]
Huang J (2025). [PMID: 41648852](https://pubmed.ncbi.nlm.nih.gov/41648852/). *Front Neurosci*. [Diagnostic / Biomarker]
Alade A (2024). [PMID: 38902479](https://pubmed.ncbi.nlm.nih.gov/38902479/). *Sci Rep*. [Basic Science / Preclinical]
Berling E (2024). [PMID: 39176129](https://pubmed.ncbi.nlm.nih.gov/39176129/). *Neurol Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618504

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 71

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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