Features include always present findings: Hepatic steatosis, Moderate intellectual disability, Dysmetria, and Shrinkage of the cerebellum (cerebellar atrophy) and others; and common findings: Achilles tendon contracture, Skeletal muscle fibrosis, Low muscle tone (hypotonia), and Enlarged liver (hepatomegaly) and others. 43 total HPO annotations.

PTRH2 function has not been fully characterized.

Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 is associated with mutations in the PTRH2 gene on chromosome 17.

Genetic testing for PTRH2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 24 always present features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1.

4 publications have been identified in PubMed for neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1. Research spans Case Report / Case Series (50%), Other (25%), and Review / Meta-Analysis (25%).

Recent Publications

• Mammi A (2024). [PMID: 38874107](https://pubmed.ncbi.nlm.nih.gov/38874107/). *J Peripher Nerv Syst*. [Case Report / Case Series]

• Berling E (2024). [PMID: 39176129](https://pubmed.ncbi.nlm.nih.gov/39176129/). *Neurol Genet*. [Case Report / Case Series]

• Zampatti S (2024). [PMID: 39457452](https://pubmed.ncbi.nlm.nih.gov/39457452/). *Genes (Basel)*. [Other]

• Sharkia R (2024). [PMID: 39766776](https://pubmed.ncbi.nlm.nih.gov/39766776/). *Genes (Basel)*. [Review / Meta-Analysis]