autosomal recessive intellectual developmental disorder 82

Term ID

DOID:0060947

Synonyms

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

• OMIM:620779

Ontology

Human Disease   ( DOID:0060947 )