Features include always present findings: Delayed ability to walk, Seizure, Shrinkage of the cerebellum (cerebellar atrophy), and Pes planus; and common findings: Microcephaly, Wide nasal bridge, Delayed speech and language development, and Global developmental delay and others. 19 total HPO annotations.

TRMT1 function has not been fully characterized.

Intellectual developmental disorder, autosomal recessive 68 is associated with mutations in the TRMT1 gene on chromosome 19.

Genetic testing for TRMT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal recessive 68 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 10 common features.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 68.

6 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 68. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Recent Publications

• Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *J Mol Med (Berl)*. [Diagnostic / Biomarker]

• Almutair A (2026). [PMID: 42267904](https://pubmed.ncbi.nlm.nih.gov/42267904/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]

• Farooq S (2025). [PMID: 41555927](https://pubmed.ncbi.nlm.nih.gov/41555927/). *Front Genet*. [Basic Science / Preclinical]

• Ghosh U (2025). [PMID: 41035246](https://pubmed.ncbi.nlm.nih.gov/41035246/). *Clin Exp Pediatr*. [Case Report / Case Series]

• Hashmi HB (2025). [PMID: 41452392](https://pubmed.ncbi.nlm.nih.gov/41452392/). *Neurogenetics*. [Diagnostic / Biomarker]