Features include always present findings: Poor head control, Microcephaly, Brain shrinkage (cerebral atrophy), and Hypoplasia of the corpus callosum and others; and common findings: Seizure, Shrinkage of the cerebellum (cerebellar atrophy), Episodic vomiting, and Enlarged cisterna magna and others. 18 total HPO annotations.

SLC5A6 function has not been fully characterized.

Neurodegeneration, infantile-onset, biotin-responsive is associated with mutations in the SLC5A6 gene on chromosome 2.

Genetic testing for SLC5A6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodegeneration, infantile-onset, biotin-responsive has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 6 common features.

No clinical trials have been registered for neurodegeneration, infantile-onset, biotin-responsive.

6 publications have been identified in PubMed for neurodegeneration, infantile-onset, biotin-responsive. Research spans Case Report / Case Series (67%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

• Ogawa E (2025). [PMID: 40272030](https://pubmed.ncbi.nlm.nih.gov/40272030/). *Am J Med Genet A*. [Case Report / Case Series]

• Walimbe AS (2025). [PMID: 39898461](https://pubmed.ncbi.nlm.nih.gov/39898461/). *Am J Med Genet A*. [Case Report / Case Series]

• D'Silva A (2025). [PMID: 39948021](https://pubmed.ncbi.nlm.nih.gov/39948021/). *Neurotherapeutics*. [Review / Meta-Analysis]

• Pi BK (2025). [PMID: 40396389](https://pubmed.ncbi.nlm.nih.gov/40396389/). *J Peripher Nerv Syst*. [Case Report / Case Series]

• Veldman A (2024). [PMID: 39846587](https://pubmed.ncbi.nlm.nih.gov/39846587/). *Int J Neonatal Screen*. [Diagnostic / Biomarker]