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Human Disease
autosomal recessive intellectual developmental disorder 82
- Term ID
- DOID:0060947
- Synonyms
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- Definition
- An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. https://pubmed.ncbi.nlm.nih.gov/37226891/
- References
- Ontology
- Human Disease ( DOID:0060947 )
- is a type of
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