SLC6A17 function has not been fully characterized.

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome has been associated with mutations in the SLC6A17 gene on chromosome 1.

Genetic testing for SLC6A17 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 8 common features.

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

No clinical trials have been registered for progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome.

197 publications have been identified in PubMed for progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome. Kisho has analyzed 117 by research type. Research spans Review / Meta-Analysis (55%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (14%).

Recent Publications

• Aguirre LE (2026). [PMID: 41587470](https://pubmed.ncbi.nlm.nih.gov/41587470/). *Blood Adv*. [Diagnostic / Biomarker]

• Castel P (2026). [PMID: 41834696](https://pubmed.ncbi.nlm.nih.gov/41834696/). *Am J Med Genet A*. [Basic Science / Preclinical]

• Bruno MK (2026). [PMID: 40842097](https://pubmed.ncbi.nlm.nih.gov/40842097/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]

• Calcaterra V (2026). [PMID: 41917641](https://pubmed.ncbi.nlm.nih.gov/41917641/). *Adv Exp Med Biol*. [Review / Meta-Analysis]

• Gudi H (2026). [PMID: 41521085](https://pubmed.ncbi.nlm.nih.gov/41521085/). *Semin Roentgenol*. [Review / Meta-Analysis]

• Mohseni M (2026). [PMID: 29261988](https://pubmed.ncbi.nlm.nih.gov/29261988/). *Unknown Journal*. [Basic Science / Preclinical]

• Partenope C (2026). [PMID: 42238235](https://pubmed.ncbi.nlm.nih.gov/42238235/). *Front Endocrinol (Lausanne)*. [Basic Science / Preclinical]

• Niu H (2026). [PMID: 42009201](https://pubmed.ncbi.nlm.nih.gov/42009201/). *Ageing Res Rev*. [Review / Meta-Analysis]

• Schmidmajer A (2026). [PMID: 41937418](https://pubmed.ncbi.nlm.nih.gov/41937418/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]

• d'Orsi G (2026). [PMID: 42166529](https://pubmed.ncbi.nlm.nih.gov/42166529/). *Epilepsia Open*. [Diagnostic / Biomarker]